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Latest revision as of 14:22, 29 March 2018

For the main page on glycogen storage disease, please click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vellayat Ali M.B.B.S [2], Anmol Pitliya, M.B.B.S. M.D.[3]

Synonyms and keywords: Andersen Disease; Brancher deficiency; Amylopectinosis; Glycogen branching enzyme deficiency; Glycogenosis IV; Adult polyglucosan body disease (APBD); Glycogen storage disease type 4; GSD type IV; GSD IV; GSD type 4; GSD 4.

Overview

Glycogen storage disease type IV (GSD IV) is a rare inherited disorder affecting the glycogen metabolism. In 1956, DH Andersen, an American pathologist and pediatrician reported the first clinical case of the disease. It is caused by mutations in the GBE1 gene, which then results in variable deficiency of glycogen branching enzyme (GBE), an enzyme responsible for the branched structure of glycogen molecules. Due to decreased activity of GBE, abnormal glycogen molecules with less branches is synthesized which then precipitates in various body tissue, especially the liver, muscle, and heart. Clinically, GSD IV manifests as different types; the classic hepatic subtype, and the neuromuscular subtype. Based on clinical features and age of onset, the neuromuscular type can be further divided into four forms including perinatal form, congenital form, late childhood form, and the adult form. The classic hepatic subtype presents with failure to thrive during first few months after birth, and then, progresses to liver dysfunction. Unless a liver transplant is performed, death due to liver cirrhosis occurs by the age of 5 years. The perinatal neuromuscular subtype presents in utero with polyhydramnios, hydrops fetalis, and decreased fetal movement. The congenital neuromuscular subtype presents in the newborn period with severe hypotonia, decreased reflexes, and dilated cardiomyopathy. The childhood neuromuscular subtype may present at any age during childhood with myopathy and cardiomyopathy which progresses to congestive heart failure. The adult neuromuscular form may present as isolated myopathy or adult polyglucosan body disease (APBD). The diagnosis requires demonstration of GBE deficiency in liver, muscle, or skin fibroblasts, and/or gene testing for mutations in GBE1. The management is multidisciplinary, and should be provided by a team comprising of a pediatrician, a cardiologist, a neurologist, a nutritionist, and a geneticist.

Historical Perspective

In 1952, B Illingworth and GT Cori observed accumulation of an abnormal glycogen (resembling amylopectin) in the liver of a patient with von Gierke's disease. They postulated this finding to a different type of enzymatic deficiency, and thus to a different type of glycogen storage disease.^[1]

In 1956, DH Andersen, an American pathologist and pediatrician, reported the first clinical case of the disease as "familial cirrhosis of the liver with storage of abnormal glycogen".^[2]
In 1966, BI Brown and DH Brown clearly demonstrated the deficiency of glycogen branching enzyme (alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase) in a case of type IV glycogenosis.^[3]

Classification

There is no established system for the classification of GSD type IV. The deficiency of GBE affecting liver, brain, heart, and skeletal muscles leads to variable clinical presentations. Based on organ/tissue involvement, age of onset and clinical features, Andersen disease can be segregated into various forms ^[4]:

Form of Presentation		Age of Onset	Clinical Features
Classic Hepatic Form		0-18 mo	Infants with classic hepatic form present with failure to thrive, hypotonia and hepatosplenomegaly. The disease progresses to portal hypertension, ascites, and liver failure, leading to death by 5 years of age.^[5] A non-progressive form is also known, patients survive without progressive liver disease.^[6]
Neuro- Muscular Form	Perinatal	In utero	Prenatal symptoms include, polyhydramnios, hydrops fetalis, and decreased fetal movement; at birth severe hypotonia is observed requiring mechanical ventilation for respiratory support.^[7]^[8] Cardiac findings like progressive cardiomyopathy may also be present.^[9]
	Congenital	At birth	Newborns may present with severe hypotonia, hyporeflexia, cardiomyopathy, depressed respiration and neuronal involvement, leading to death in early infancy.^[10]
	Late childhood	0-18 yrs	Presents in childhood at any age with myopathy as exercise intolerance, and cardiopathy as exertional dyspnea; and congestive heart failure in progressed cases.^[11]
	Adult	>18-21 yrs (any age in adulthood)	May present as isolated myopathy or as adupolyglucosansan body disease (APBD)^[12]^[13]

Pathophysiology

Pathogenesis

Glycogen storage disease type IV is an autosomal recessive genetic disorder which results due to deficiency of glycogen branching enzyme (GBE).^[14]
During glycogenesis, the branching enzyme introduces branches to growing glycogen chains by transferring α-1,4-linked glucose monomers from the outer end of a chain into an α-1,6 position of the same or neighboring glycogen chain.^[15]
Deficiency of GBE affects the branching process, yielding a polysaccharide which has fewer branching points and longer outer chains, thus resembling amylopectin. This new amylopectin-like structure is also known as polyglucosan.^[16]
The enzyme deficiency affects all the bodily tissues; but liver, heart, skeletal muscles, and the nervous system are mostly affected.
The abnormally branched glycogen accumulates as intra-cytoplasmic non membrane-bound inclusions in hepatocytes, myocytes, and neuromuscular system; where it increases osmotic pressure within cells, causing cellular swelling and death.^[17]
The altered structure also renders glycogen to become less soluble, and this is thought to lead into a foreign body reaction causing fibrosis, and finally culminating in liver failure. ^[18]
In skeletal muscle, accumulation leads to muscle weakness, fatigue, exercise intolerance, and muscular atrophy.^[19]
The heart may be affected with a wide spectrum of cardiomyopathy; from dilated to hypertrophic and from asymptomatic to decompensated heart failure may occur.^[20]
Although exact mechanism for this pathology is not known, glycogen deposition in the myocardium is thought to initiate signaling pathways which cause sarcomeric hypertrophy, resulting in hypertrophic cardiomyopathy.^[21]

Metabolic pathways showing defects in various glycogen storage diseases, (ɔ) Image courtesy of WikiDoc.org, by **"Dr. Anmol Pitliya"**

Adult Polyglucosan Body Disease (APBD)

Adult polyglucosan body disease is one of the neuromuscular variant of GSD type IV.
It is a late-onset, slowly progressive disorder of the nervous system GBE deficiency in a subgroup of patients of Ashkenazi Jewish origin.^[22]
Typically, the first clinical manifestation is of urinary incontinence secondary to neurogenic bladder.^[23]
This is followed by gait disturbance (due to spastic paraplegia) and lower limb paresthesias.^[24]
Patients deteriorate slowly over years and lose ability to ambulate independently, and develop paralysis of the upper limbs as well.^[24]
Progressive dementia is also seen in these patients.^[25]
The pathological hallmark of the disorder is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.^[26]
The disease often leads to premature death.^[27]

Causes

The cause of GSD type IV is variable deficiency of glycogen branching enzyme (GBE).

The deficiency is due to various mutations of GBE1 gene encoding the single polypeptide protein.
Glycogen branching enzyme is a 702 amino acid protein encoded by GBE1 gene mapped to chromosome 3p12.2.^[28]
Mutations in the GBE1 are responsible for enzymatic deficiency, and so far 40 pathogenic variants have been identified in individuals with GSD IV or adult-onset polyglucosan body disease (APBD).^[29]

Differentiating from Other Diseases

Comparisons may be useful for a differential diagnosis as a number of other disease conditions with clinical features may present similar to those associated with GSD type IV.
Presenting as hepatomegaly in infancy, the following glycogen metabolism disorders should be differentiated from GSD type IV;

Metabolic disorders presenting with muscle weakness/myopathy during infancy should also be considered;

Differentiating Glycogen Storage Diseases
Glycogen storage disease			Enzyme deficiency	Genetics			History and symptoms		Physical examination		Laboratory findings	Imaging	Other features
Glycogen storage disease			Enzyme deficiency	Gene mutation	Inheritance	Chromosome	Hypoglycemia	Muscle weakness	Hypotonia	Hepatomegaly	Elevated CK	Cardiomegaly	Other features
Glycogen storage disease type I^[30]^[31]^[32]^[33]^[34]^[35]^[36]	Von Gierke's disease	GSD type Ia	Glucose-6-phosphatase	G6PC gene mutation	Autosomal recessive	17q21	+	+	+	+	-	-	Lactic acidosis Hyperlipidemia Hyperuricemia
	Von Gierke's disease	GSD type Ib	Microsomal glucose-6-phosphate transporter	SLC37A4 gene mutation	Autosomal recessive	11q23	+	+	+	+	-	-	Lactic acidosis Hyperlipidemia Hyperuricemia
Glycogen storage disease type II^[37]^[38]^[39]^[40]^[41]^[42]^[43]^[44]^[45]	Pompe disease	Infantile onset	Acid alpha-glucosidase	GAA gene	Autosomal recessive	17q25	-	+	+	+	+	+	Elevated LDH Elevated liver aminotransferases Elevated urinary glc4
	Pompe disease	Late onset	Acid alpha-glucosidase	GAA gene	Autosomal recessive	17q25	-	+	+	+	+	+/-
Glycogen storage disease type III^[46]^[47]^[48]^[49]^[50]^[51]	Cori disease	GSD type IIIa	Debranching enzyme (deficiency in muscle and liver)	AGL gene mutation	Autosomal recessive	1p21	+	+	+	+	+	+	Ketosis Hyperlipidemia Elevated liver aminotransferases
	Cori disease	GSD type IIIb	Debranching enzyme (deficiency in liver only)	AGL gene mutation	Autosomal recessive	1p21	+	+	+	+	+	+	Ketosis Hyperlipidemia Elevated liver aminotransferases
Glycogen storage disease type IV^[52]^[53]^[54]^[55]^[56]	Andersen's disease		Branching enzyme	GBE1 gene mutation	Autosomal recessive	3p12	+/-	+	+	+	+	+	-
Glycogen storage disease type V^[57]^[58]^[59]^[60]^[61]^[62]^[63]	McArdle disease		Muscle glycogen phosphorylase	PYGM gene mutation	Autosomal recessive	11q13	-	+	-	-	+	-	Myoglobinuria, may result in renal failure
Glycogen storage disease type VI^[64]^[65]^[66]^[67]^[68]	Hers' disease	Autosomal	Liver glycogen phosphorylase	PYGL gene mutation	Autosomal recessive	14q22	+/-	+	+/-	+	-	-	Hyperlipidemia Elevated liver aminotransferases
	Hers' disease	X-linked	Liver glycogen phosphorylase	PYGL gene mutation	X-linked recessive	X	+/-	+	+/-	+	-	-	Hyperlipidemia Elevated liver aminotransferases
Glycogen storage disease type VII^[69]^[70]^[71]^[72]^[73]^[74]	Tarui's disease		Muscle phosphofructokinase	PFKM gene mutation	Autosomal recessive	12q13	+	+	-	-	+	+	Reticulocytosis Hyperuricemia Myoglobinuria Hemolytic anemia
Glycogen storage disease type IX^[75]^[65]^[76]		GSD type IXa^[77]^[78]^[79]^[80]^[81]	Phosphorylase b kinase (deficiency in liver only)	PHKA2 gene mutation	X-linked recessive	Xp22	+	-	-	+	-	-	Hyperlipidemia Elevated liver aminotransferases Hyperuricemia Fasting ketosis
Glycogen storage disease type IX^[75]^[65]^[76]		GSD type IXb^[82]^[83]^[84]	Phosphorylase b kinase (deficiency in liver and muscle)	PHKB gene mutation	Autosomal recessive	16q12	+	-	-	+	-	-	Hyperlipidemia Elevated liver aminotransferases
Glycogen storage disease type X^[85]^[86]^[87]^[88]			Phosphoglycerate mutase	PGAM2 gene mutation	Autosomal recessive	7p13	-	-	-	-	+	-	Myoglobinuria Gout (tophy) Severe coronary arteriosclerosis
Glycogen storage disease type XI^[89]^[90]^[91]^[92]	Lactate dehydrogenase A deficiency		Lactate dehydrogenase A	LDHA gene mutation	Autosomal recessive	11p15	-	-	-	-	+	-	Muscle stiffness Lactic acidosis Myoglobinuria Easy fatigue
Glycogen storage disease type XII^[93]^[94]^[95]^[96]	Aldolase A deficiency		Aldolase A	ALDOA gene mutation	Autosomal recessive	16p11	-	+	-	+	-	-	Hemolytic anemia Splenomegaly
Glycogen storage disease type XIII^[97]			Beta-enolase	ENO3 gene mutation	Autosomal recessive	17p13	-	+	-	-	+	-	-
Glycogen storage disease type XIV^[98]^[99]			Phosphoglucomutase type 2	PGM1 gene mutation	Autosomal recessive	1p31	+/-	+	-	-	+	-	Elevated liver aminotransferases
Glycogen storage disease type 0^[100]^[101]^[102]^[103]	Lewis' disease		Hepatic glycogen synthase	GYS2 gene mutation (liver)	Autosomal recessive	12p12	+	-	-	-	-	-	Fasting hypoglycemia and ketosis Postprandial hyperglycemia and lactic acidosis

Epidemiology and Demographics

Frequency

The incidence of GSD type IV is approximately 0.13 to 0.17 per 100,000 individuals worldwide.^[104] ^[105]

Gender

GSD type IV affects men and women equally.^[104]

Race

Adult polyglucosan body disease usually affects individuals of the Ashkenazi Jewish population. Familial aggregation is observed in about 30% of cases.^[104]

Risk Factors

The most potent risk factor in the development of glycogen storage disease type IV is a sibling with glycogen storage disease type IV. ^[106]

Screening

Currently, there is no screening guideline recommended.
In some cases, the disease may be diagnosed prenatally via chorionic villus sampling (CVS) and amniocentesis.

Prenatal Diagnosis

After genetic confirmation of the affected cases, future pregnancies can be monitored by determining branching enzyme activity and DNA analysis of chorionic villi or cultured amniocytes.^[107]^[108]

Histological analysis of placental tissue may also be used in prenatal diagnosis of the disease.^[109]

Natural History, Complications, and Prognosis

GSD type IV is a very rare disorder.

Liver transplantation has been found to prevent progression of the disease.
Common complication of GSD type IV include liver failure which presents as ascities, portal hypertension, and coagulopathy.
Classic hepatic form begins in first year of life, progresses to hepatic failure, and death occurs by 5 years of age.

Most children with this condition die before two years of age, in rare cases progression to liver dysfunction does not occur.

Diagnosis

Glycogen storage disease type IV should be suspected in a patient based on clinical features and finding abnormally branched glycogen accumulation in muscle or liver tissue.

Diagnostic Study of Choice

The diagnosis of GSD type IV is confirmed by using either or both of the following:

Demonstration of glycogen branching enzyme (GBE) deficiency in liver, muscle, or skin fibroblasts.^[110]

Molecular genetic testing of GBE1 gene for mutations.

Liver biopsy

Liver biopsy shows accumulation of abnormal glycogen in hepatocytes. The deposits stain strongly positive with periodic acid-Schiff (PAS), appear brown with iodine, and are only partially digested by diastase.^[111]
The deposits appear precipitated and are centrally placed in the hepatocytes, while nuclei are eccentric in position.^[111]

History and Symptoms

Classically, the patients present in their first year of life with history of failure to thrive and hepatosplenomegaly.^[112]
As the disease progress towards cirrhosis, features of hepatic failure become evident.
Rarely in some children, hepatomegaly is the only presentation and disease does not progress to liver failure.^[55]^[113]
In perinatal variant, affected newborns may have a prenatal history of polyhydramnios, reduced utero fetal movements, and fetal hydrops. At birth, lack of active movements, sucking, and swallowing is noted.^[114]
Individuals with late childhood form usually present in the second decade of life with complaints of exercise intolerance and exertional dyspnea secondary to muscle involvement and cardiomyopathy respectively.^[31]

Physical Examination

Findings on physical examination of patients with glycogen storage disease type IV vary with respect to the disease variant and organ system involved.

In infants with the classic (hepatic) form of GSD type IV, findings depicting liver involvement predominate:^[115]
- Abdominal distension
- Hepatosplenomegaly
- Signs and symptoms of portal hypertension

Newborns with perinatal form of disease may show:
- Poor respiratory effort at birth^[116]
- Hyporeflexia^[116]
- Severely decreased muscle tone ^[117]

Patients with late childhood form of disease may have:
- Dysmorphic features ^[118]
- Myopathic faces, hypotonia, and waddling gait with hyperlordosis ^[52]

Laboratory Findings

Liver functions tests:^[106]
- ALT and AST are typically elevated in the hepatic subtype of disease.
- Progression towards liver dysfunction is suspected if:
  - Decreased albumin levels
  - Prolonged partial thromboplastin time (PTT) and prothrombin time (PT)

GBE activity
- Decreased activity of glycogen branching enzyme is found in the liver, leukocytes, erythrocytes and fibroblasts. ^[119] ^[120]

Creatinine kinase (CK) levels:
- CK levels are usually elevated, demonstrating muscle pathology, in the neuromuscular forms of the disease.

Chitotriosidase levels:
- Plasma chitotriosidase levels are elevated in GSD type IV. ^[121]

X-ray

There are no X-ray findings associated with GSD type IV. However, chest x-ray may be helpful in diagnosing complication of GSD type IV due to cardic involvement.
Chest x-ray findings due to cardiac involvement in GSD type IV include:^[122]
- Pleural effusions
- Cardiomegaly

Electrocardiogram

There are no electrocardiogram finding associated with GSD type IV. However, after the initial diagnosis, a baseline electrocardiogram is suggested to monitor for cardiomyopathy.^[106]

Echocardiography

There are no echocardiography finding associated with GSD type IV. However, echocardiography may be helpful in diagnosing complication of GSD type IV due to heart failure.
Echocardiography findings due to heart failure in GSD type IV include:^[123]
- Cardiomyopathy

Ultrasonography

Abdominal ultrasound examination is done in the initial workup of the disease.
It may show hepatosplenomegaly and coarse echo pattern of the liver.

CT scan

CT scan is usually not indicated in GSD type IV.
However, CT scan may be helpful in diagnosis of complications of the GSD type IV. Cirrhotic changes in liver parenchyma may be observed in CT scan.

MRI

Magnetic resonance imaging is routinely not indicated for the diagnostic purposes.
However, MRI may be helpful in diagnosis of CNS involvement and adult polyglucosan body disease (APBD).
MRI of the head may reveal leukoencephalopathy and cortical atrophy. MRI typically demonstrates: ^[124]
- Medullary and spinal atrophy
- Mild thinning of corpus callosum
- Symmetric periventricular white matter changes with occipital predominance

Treatment

Medical Therapy

There is no specific treatment available for the disease.
The mainstay of therapy is to provide symptomatic and supportive care through coordinated efforts of a multidisciplinary team consisting of healthcare professionals.
Symptomatic care involves treating manifestations of hepatic dysfunction i.e. ascites, portal hypertension, variceal bleeds, and coagulopathy.
Once hepatic failure sets in, liver transplantation is the only treatment option available.^[125]

Liver transplant surgery

Liver transplantation is the most effective treatment for patients with classic GSD type IV.^[126]
Like other transplant surgeries, risks include immediate postoperative complications and organ rejection.
Living donor liver transplant is also a viable option. Long-term follow-up after LT for GSD shows excellent graft and patient survival.^[127]
As GSD type IV is a multi-system disorder, the long-term success of liver transplantation and its effect on the disease progression in other organs is unclear.
Several patients have reportedly experienced decreased progression after transplant surgery, while few patients developed accumulation of abnormal glycogen in other organs e.g. heart.^[128]^[129]

References

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↑ Watkins, Hugh; Schwartz, Robert S.; Ashrafian, Houman; Redwood, Charles (2011). "Inherited Cardiomyopathies". New England Journal of Medicine. 364 (17): 1643–1656. doi:10.1056/NEJMra0902923. ISSN 0028-4793.
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↑ Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A (September 2012). "Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings". Ann. Neurol. 72 (3): 433–41. doi:10.1002/ana.23598. PMC 4329926. PMID 23034915.
↑ ^24.0 ^24.1 Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A (September 2012). "Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings". Ann. Neurol. 72 (3): 433–41. doi:10.1002/ana.23598. PMC 4329926. PMID 23034915.
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@@ Line 3: / Line 3: @@
 '''For the main page on glycogen storage disease, please click [[Glycogen storage disease|here]]'''<br>
 {{SI}}
-{{CMG}}; {{AE}} {{VA}}
+{{CMG}}; {{AE}} {{VA}}, {{Anmol}}
-{{SK}} Andersen Disease; Brancher deficiency; Amylopectinosis; Glycogen Branching Enzyme Deficiency; Glycogenosis IV; Adult polyglucosan body disease (APBD)
+{{SK}} Andersen Disease; Brancher deficiency; Amylopectinosis; Glycogen branching enzyme deficiency; Glycogenosis IV; Adult polyglucosan body disease (APBD); Glycogen storage disease type 4; GSD type IV; GSD IV; GSD type 4; GSD 4.
 ==Overview==
+Glycogen storage disease type IV (GSD IV) is a rare [[inherited disorder]] affecting the [[glycogen]] [[metabolism]]. In 1956, DH Andersen, an American [[pathologist]] and [[pediatrician]] reported the first [[clinical]] case of the [[disease]]. It is caused by [[mutations]] in the ''GBE1'' [[gene]], which then results in variable deficiency of [[glycogen branching enzyme]] (GBE), an [[enzyme]] responsible for the branched structure of [[glycogen]] molecules. Due to decreased activity of GBE, abnormal [[glycogen]] molecules with less branches is synthesized which then precipitates in various body [[tissue]], especially the [[liver]], [[muscle]], and [[heart]]. Clinically, GSD IV manifests as different types; the classic [[hepatic]] subtype, and the [[neuromuscular]] subtype. Based on clinical features and age of onset, the [[neuromuscular]] type can be further divided into four forms including [[perinatal]] form, [[congenital]] form, late childhood form, and the [[adult]] form. The classic [[hepatic]] subtype presents with failure to thrive during first few months after [[birth]], and then, progresses to liver dysfunction. Unless a [[liver transplant]] is performed, death due to [[liver cirrhosis]] occurs by the age of 5 years. The [[perinatal]] [[neuromuscular]] subtype presents in utero with [[polyhydramnios]], [[hydrops fetalis]], and decreased fetal movement. The [[congenital]] [[neuromuscular]] subtype presents in the [[newborn]] period with severe [[hypotonia]], decreased [[reflexes]], and [[dilated cardiomyopathy]]. The childhood [[neuromuscular]] subtype may present at any age during [[childhood]] with [[myopathy]] and [[cardiomyopathy]] which progresses to [[congestive heart failure]]. The adult [[neuromuscular]] form may present as isolated [[myopathy]] or adult polyglucosan body disease (APBD). The [[diagnosis]] requires demonstration of [[GBE]] deficiency in [[liver]], [[muscle]], or [[skin]] [[fibroblasts]], and/or [[gene]] [[testing]] for [[mutations]] in GBE1. The management is multidisciplinary, and should be provided by a team comprising of a [[pediatrician]], a [[cardiologist]], a [[neurologist]], a [[Nutritionists|nutritionist]], and a [[geneticist]].
 ==Historical Perspective==
 * In 1952, B Illingworth and GT Cori observed accumulation of an abnormal [[glycogen]] (resembling [[amylopectin]]) in the [[liver]] of a patient with [[von Gierke's disease]]. They postulated this finding to a different type of [[enzymatic]] deficiency, and thus to a different type of [[glycogen storage disease]].<ref name="pmid13022672">{{cite journal| author=ILLINGWORTH B, CORI GT| title=Structure of glycogens and amylopectins. III. Normal and abnormal human glycogen. | journal=J Biol Chem | year= 1952 | volume= 199 | issue= 2 | pages= 653-60 | pmid=13022672 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13022672  }} </ref>
-* In 1956, DH Andersen, an American pathologist and pediatrician, reported the first clinical case of the disease as "familial cirrhosis of the liver with storage of abnormal glycogen".<ref name="pmid13279125">{{cite journal |vauthors=ANDERSEN DH |title=Familial cirrhosis of the liver with storage of abnormal glycogen |journal=Lab. Invest. |volume=5 |issue=1 |pages=11–20 |date=1956 |pmid=13279125 |doi= |url=}}</ref>
+* In 1956, DH Andersen, an American [[pathologist]] and [[pediatrician]], reported the first clinical case of the disease as "[[familial]] cirrhosis of the liver with storage of abnormal glycogen".<ref name="pmid13279125">{{cite journal |vauthors=ANDERSEN DH |title=Familial cirrhosis of the liver with storage of abnormal glycogen |journal=Lab. Invest. |volume=5 |issue=1 |pages=11–20 |date=1956 |pmid=13279125 |doi= |url=}}</ref>
-* In 1966, BI Brown and DH Brown clearly demonstrated the deficiency of glycogen branching enzyme (alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase) in a case of Type IV glycogenosis.<ref name="pmid224432">{{cite journal |vauthors=Hawlina A, Osswald H |title=Cyclic nucleotides in renal tissue and urine during graded expansion of extracellular fluid volume in intact and acutely parathyroidectomized rats |journal=Res Exp Med (Berl) |volume=175 |issue=2 |pages=139–48 |date=May 1979 |pmid=224432 |doi= |url=}}</ref>
+* In 1966, BI Brown and DH Brown clearly demonstrated the deficiency of [[glycogen branching enzyme]] (alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase) in a case of type IV glycogenosis.<ref name="pmid224432">{{cite journal |vauthors=Hawlina A, Osswald H |title=Cyclic nucleotides in renal tissue and urine during graded expansion of extracellular fluid volume in intact and acutely parathyroidectomized rats |journal=Res Exp Med (Berl) |volume=175 |issue=2 |pages=139–48 |date=May 1979 |pmid=224432 |doi= |url=}}</ref>
 ==Classification==
-There is no established system for the classification of GSD Type IV. The deficiency of GBE affecting liver, brain, heart, and skeletal muscles leads to variable clinical presentations. Based on organ/tissue involvement, age of onset and clinical features, Andersen disease can be segregated into various forms <ref name="pmid16278887">{{cite journal |vauthors=L'herminé-Coulomb A, Beuzen F, Bouvier R, Rolland MO, Froissart R, Menez F, Audibert F, Labrune P |title=Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family |journal=Am. J. Med. Genet. A |volume=139A |issue=2 |pages=118–22 |date=December 2005 |pmid=16278887 |doi=10.1002/ajmg.a.30945 |url=}}</ref> as below:
+There is no established system for the classification of GSD type IV. The deficiency of [[GBE]] affecting [[liver]], brain, heart, and skeletal muscles leads to variable clinical presentations. Based on organ/tissue involvement, age of onset and clinical features, Andersen disease can be segregated into various forms <ref name="pmid16278887">{{cite journal |vauthors=L'herminé-Coulomb A, Beuzen F, Bouvier R, Rolland MO, Froissart R, Menez F, Audibert F, Labrune P |title=Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family |journal=Am. J. Med. Genet. A |volume=139A |issue=2 |pages=118–22 |date=December 2005 |pmid=16278887 |doi=10.1002/ajmg.a.30945 |url=}}</ref>:
-{| class="wikitable"
+{|
 ! colspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Form of Presentation
-!Age of
+! style="background:#4479BA; color: #FFFFFF;" align="center" + |Age of
 Onset
-!Clinical Features
+! style="background:#4479BA; color: #FFFFFF;" align="center" + |Clinical Features
 |-
 | colspan="2" style="background:#DCDCDC;" align="center" + |Classic Hepatic Form
 | style="background:#F5F5F5;" align="center" + |0-18 mo
-|Infants with classic hepatic form present with failure to thrive, hypotonia and hepatosplenomegaly. The disease progresses to portal hypertension, ascites, and liver failure, leading to death by 5 years of age.<ref name="pmid8613547">{{cite journal |vauthors=Bao Y, Kishnani P, Wu JY, Chen YT |title=Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene |journal=J. Clin. Invest. |volume=97 |issue=4 |pages=941–8 |date=February 1996 |pmid=8613547 |pmc=507139 |doi=10.1172/JCI118517 |url=}}</ref>
+| style="background:#F5F5F5;" |
+*[[Infant|Infants]] with classic hepatic form present with [[failure to thrive]], [[hypotonia]] and [[hepatosplenomegaly]].
+*The disease progresses to [[portal hypertension]], [[Ascites|ascite]]<nowiki/>s, and [[liver failure]], leading to death by 5 years of age.<ref name="pmid8613547">{{cite journal |vauthors=Bao Y, Kishnani P, Wu JY, Chen YT |title=Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene |journal=J. Clin. Invest. |volume=97 |issue=4 |pages=941–8 |date=February 1996 |pmid=8613547 |pmc=507139 |doi=10.1172/JCI118517 |url=}}</ref>
+*A non-progressive form is also known, patients survive without progressive liver disease.<ref name="pmid31627252">{{cite journal |vauthors=Greene HL, Brown BI, McClenathan DT, Agostini RM, Taylor SR |title=A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease |journal=Hepatology |volume=8 |issue=2 |pages=302–6 |date=1988 |pmid=3162725 |doi= |url=}}</ref>
 |-
-| rowspan="4" style="background:#DCDCDC;" align="center" + |Neuro-
+| rowspan="4" style="background:#DCDCDC;" align="center" + |Neuro-<br>Muscular<br>Form
-Muscular
+| style="background:#DCDCDC;" align="center" + |Perinatal
+| style="background:#F5F5F5;" align="center" + |In utero
-Form
+| style="background:#F5F5F5;" |
-|Perinatal
+*Prenatal symptoms include, [[polyhydramnios]], [[hydrops fetalis]], and decreased fetal movement; at birth severe hypotonia is observed requiring [[mechanical ventilation]] for respiratory support.<ref name="pmid23014386">{{cite journal |vauthors=Escobar LF, Wagner S, Tucker M, Wareham J |title=Neonatal presentation of lethal neuromuscular glycogen storage disease type IV |journal=J Perinatol |volume=32 |issue=10 |pages=810–3 |date=October 2012 |pmid=23014386 |doi=10.1038/jp.2011.178 |url=}}</ref><ref name="pmid15520786">{{cite journal |vauthors=Janecke AR, Dertinger S, Ketelsen UP, Bereuter L, Simma B, Müller T, Vogel W, Offner FA |title=Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1 |journal=J. Pediatr. |volume=145 |issue=5 |pages=705–9 |date=November 2004 |pmid=15520786 |doi=10.1016/j.jpeds.2004.07.024 |url=}}</ref>
-|In utero
+*Cardiac findings like progressive [[cardiomyopathy]] may also be present.<ref name="pmid155207862">{{cite journal |vauthors=Janecke AR, Dertinger S, Ketelsen UP, Bereuter L, Simma B, Müller T, Vogel W, Offner FA |title=Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1 |journal=J. Pediatr. |volume=145 |issue=5 |pages=705–9 |date=November 2004 |pmid=15520786 |doi=10.1016/j.jpeds.2004.07.024 |url=}}</ref>
-|Prenatal symptoms include, polyhydramnios, hydrops fetalis, and decreased fetal movement; at birth severe hypotonia is observed requiring mechanical ventilation for respiratory support.<ref name="pmid23014386">{{cite journal |vauthors=Escobar LF, Wagner S, Tucker M, Wareham J |title=Neonatal presentation of lethal neuromuscular glycogen storage disease type IV |journal=J Perinatol |volume=32 |issue=10 |pages=810–3 |date=October 2012 |pmid=23014386 |doi=10.1038/jp.2011.178 |url=}}</ref><ref name="pmid15520786">{{cite journal |vauthors=Janecke AR, Dertinger S, Ketelsen UP, Bereuter L, Simma B, Müller T, Vogel W, Offner FA |title=Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1 |journal=J. Pediatr. |volume=145 |issue=5 |pages=705–9 |date=November 2004 |pmid=15520786 |doi=10.1016/j.jpeds.2004.07.024 |url=}}</ref> Cardiac findings like progressive cardiomyopathy may also be present.<ref name="pmid155207862">{{cite journal |vauthors=Janecke AR, Dertinger S, Ketelsen UP, Bereuter L, Simma B, Müller T, Vogel W, Offner FA |title=Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1 |journal=J. Pediatr. |volume=145 |issue=5 |pages=705–9 |date=November 2004 |pmid=15520786 |doi=10.1016/j.jpeds.2004.07.024 |url=}}</ref>
 |-
-|Congenital
+| style="background:#DCDCDC;" align="center" + |Congenital
-|At birth
+| style="background:#F5F5F5;" align="center" + |At birth
-|Newborns may present with severe hypotonia, hyporeflexia, cardiomyopathy, depressed respiration and neuronal involvement, leading to death in early infancy.<ref name="pmid4146814">{{cite journal |vauthors=Renwick AG, Oliver JF |title=The aromatization of (7 -3H) androstenedione by human placental mitochondria |journal=Steroids |volume=22 |issue=1 |pages=123–32 |date=July 1973 |pmid=4146814 |doi= |url=}}</ref>
+| style="background:#F5F5F5;" |
+*Newborns may present with severe hypotonia, [[hyporeflexia]], [[cardiomyopathy]], depressed respiration and neuronal involvement, leading to death in early [[infancy]].<ref name="pmid4146814">{{cite journal |vauthors=Renwick AG, Oliver JF |title=The aromatization of (7 -3H) androstenedione by human placental mitochondria |journal=Steroids |volume=22 |issue=1 |pages=123–32 |date=July 1973 |pmid=4146814 |doi= |url=}}</ref>
 |-
-|Late childhood
+| style="background:#DCDCDC;" align="center" + |Late childhood
-|0-18 yrs
+| style="background:#F5F5F5;" align="center" + |0-18 yrs
-|Presents in childhood at any age with myopathy as exercise intolerance, and cardiopathy as exertional dyspnea; and congestive heart failure in progressed cases.<ref name="pmid41468142">{{cite journal |vauthors=Renwick AG, Oliver JF |title=The aromatization of (7 -3H) androstenedione by human placental mitochondria |journal=Steroids |volume=22 |issue=1 |pages=123–32 |date=July 1973 |pmid=4146814 |doi= |url=}}</ref>
+| style="background:#F5F5F5;" |
+*Presents in childhood at any age with [[myopathy]] as [[exercise intolerance]], and [[Cardiomyopathy|cardiopathy]] as [[Dyspnea|exertional dyspnea]]; and [[congestive heart failure]] in progressed cases.<ref name="pmid41468142">{{cite journal |vauthors=Renwick AG, Oliver JF |title=The aromatization of (7 -3H) androstenedione by human placental mitochondria |journal=Steroids |volume=22 |issue=1 |pages=123–32 |date=July 1973 |pmid=4146814 |doi= |url=}}</ref>
 |-
-|Adult
+| style="background:#DCDCDC;" align="center" + |Adult
-|>18-21 yrs (any age in adulthood)
+| style="background:#F5F5F5;" align="center" + |>18-21 yrs<br>(any age in adulthood)
-|May present as isolated myopathy<ref name="pmid1311021">{{cite journal |vauthors=Goebel HH, Shin YS, Gullotta F, Yokota T, Alroy J, Voit T, Haller P, Schulz A |title=Adult polyglucosan body myopathy |journal=J. Neuropathol. Exp. Neurol. |volume=51 |issue=1 |pages=24–35 |date=January 1992 |pmid=1311021 |doi= |url=}}</ref> or as Adult Polyglucosan Body Disease (APBD)<ref name="pmid8494336">{{cite journal |vauthors=Bruno C, Servidei S, Shanske S, Karpati G, Carpenter S, McKee D, Barohn RJ, Hirano M, Rifai Z, DiMauro S |title=Glycogen branching enzyme deficiency in adult polyglucosan body disease |journal=Ann. Neurol. |volume=33 |issue=1 |pages=88–93 |date=January 1993 |pmid=8494336 |doi=10.1002/ana.410330114 |url=}}</ref>
+| style="background:#F5F5F5;" |
+*May present as isolated myopathy or as adupolyglucosansan body disease (APBD)<ref name="pmid1311021">{{cite journal |vauthors=Goebel HH, Shin YS, Gullotta F, Yokota T, Alroy J, Voit T, Haller P, Schulz A |title=Adult polyglucosan body myopathy |journal=J. Neuropathol. Exp. Neurol. |volume=51 |issue=1 |pages=24–35 |date=January 1992 |pmid=1311021 |doi= |url=}}</ref><ref name="pmid8494336">{{cite journal |vauthors=Bruno C, Servidei S, Shanske S, Karpati G, Carpenter S, McKee D, Barohn RJ, Hirano M, Rifai Z, DiMauro S |title=Glycogen branching enzyme deficiency in adult polyglucosan body disease |journal=Ann. Neurol. |volume=33 |issue=1 |pages=88–93 |date=January 1993 |pmid=8494336 |doi=10.1002/ana.410330114 |url=}}</ref>
 |}
-==== Adult Polyglucosan Body Disease (APBD) ====
-* Adult Polyglucosan body disease is one of the neuromuscular variant of GSD Type IV.
-* It is a late-onset, slowly progressive disorder of the nervous system GBE deficiency in a subgroup of patients of Ashkenazi Jewish origin.<ref name="pmid9851430">{{cite journal |vauthors=Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z, Shpitzen S, Meiner V |title=Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene |journal=Ann. Neurol. |volume=44 |issue=6 |pages=867–72 |date=December 1998 |pmid=9851430 |doi=10.1002/ana.410440604 |url=}}</ref>
-* Typically, the first clinical manifestation is of urinary incontinence secondary to neurogenic bladder.<ref name="pmid23034915">{{cite journal |vauthors=Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A |title=Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings |journal=Ann. Neurol. |volume=72 |issue=3 |pages=433–41 |date=September 2012 |pmid=23034915 |pmc=4329926 |doi=10.1002/ana.23598 |url=}}</ref>
-* This is followed by gait disturbance (due to spastic paraplegia) and lower limb paresthesias.<ref name="pmid230349152">{{cite journal |vauthors=Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A |title=Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings |journal=Ann. Neurol. |volume=72 |issue=3 |pages=433–41 |date=September 2012 |pmid=23034915 |pmc=4329926 |doi=10.1002/ana.23598 |url=}}</ref>
-* Patients deteriorate slowly over years and lose ability to ambulate independently, and develop paralysis of the upper limbs as well.<ref name="MochelSchiffmann2012">{{cite journal|last1=Mochel|first1=Fanny|last2=Schiffmann|first2=Raphael|last3=Steenweg|first3=Marjan E.|last4=Akman|first4=Hasan O.|last5=Wallace|first5=Mary|last6=Sedel|first6=Frédéric|last7=Laforêt|first7=Pascal|last8=Levy|first8=Richard|last9=Powers|first9=J. Michael|last10=Demeret|first10=Sophie|last11=Maisonobe|first11=Thierry|last12=Froissart|first12=Roseline|last13=Da Nobrega|first13=Bruno Barcelos|last14=Fogel|first14=Brent L.|last15=Natowicz|first15=Marvin R.|last16=Lubetzki|first16=Catherine|last17=Durr|first17=Alexandra|last18=Brice|first18=Alexis|last19=Rosenmann|first19=Hanna|last20=Barash|first20=Varda|last21=Kakhlon|first21=Or|last22=Gomori|first22=J. Moshe|last23=van der Knaap|first23=Marjo S.|last24=Lossos|first24=Alexander|title=Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings|journal=Annals of Neurology|volume=72|issue=3|year=2012|pages=433–441|issn=03645134|doi=10.1002/ana.23598}}</ref>
-* Progressive dementia is also seen in these patients.<ref name="pmid8274116">{{cite journal |vauthors=Rifai Z, Klitzke M, Tawil R, Kazee AM, Shanske S, DiMauro S, Griggs RC |title=Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction |journal=Arch. Neurol. |volume=51 |issue=1 |pages=90–4 |date=January 1994 |pmid=8274116 |doi= |url=}}</ref>
-* The pathologic hallmark of the disorder is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.OMIM
-* The disease often leads to premature death.<ref name="pmid230349154">{{cite journal |vauthors=Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A |title=Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings |journal=Ann. Neurol. |volume=72 |issue=3 |pages=433–41 |date=September 2012 |pmid=23034915 |pmc=4329926 |doi=10.1002/ana.23598 |url=}}</ref>
 ==Pathophysiology==
 ===Pathogenesis===
-* Glycogen storage disease type IV is an autosomal recessive genetic disorder which results due to deficiency of glycogen branching enzyme (GBE).<ref name="LeeChang2011">{{cite journal|last1=Lee|first1=Yi-Ching|last2=Chang|first2=Chia-Jung|last3=Bali|first3=Deeksha|last4=Chen|first4=Yuan-Tsong|last5=Yan|first5=Yu-Ting|title=Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV|journal=Human Molecular Genetics|volume=20|issue=3|year=2011|pages=455–465|issn=1460-2083|doi=10.1093/hmg/ddq492}}</ref>
+* Glycogen storage disease type IV is an [[autosomal recessive]] genetic disorder which results due to deficiency of glycogen branching enzyme (GBE).<ref name="LeeChang2011">{{cite journal|last1=Lee|first1=Yi-Ching|last2=Chang|first2=Chia-Jung|last3=Bali|first3=Deeksha|last4=Chen|first4=Yuan-Tsong|last5=Yan|first5=Yu-Ting|title=Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV|journal=Human Molecular Genetics|volume=20|issue=3|year=2011|pages=455–465|issn=1460-2083|doi=10.1093/hmg/ddq492}}</ref>
-* During Glycogenesis, the branching enzyme introduces branches to growing glycogen chains by transferring α-1,4-linked glucose monomers from the outer end of a chain into an α-1,6 position of the same or neighboring glycogen chain.<ref name="FroeseMichaeli2015">{{cite journal|last1=Froese|first1=D. Sean|last2=Michaeli|first2=Amit|last3=McCorvie|first3=Thomas J.|last4=Krojer|first4=Tobias|last5=Sasi|first5=Meitav|last6=Melaev|first6=Esther|last7=Goldblum|first7=Amiram|last8=Zatsepin|first8=Maria|last9=Lossos|first9=Alexander|last10=Álvarez|first10=Rafael|last11=Escribá|first11=Pablo V.|last12=Minassian|first12=Berge A.|last13=von Delft|first13=Frank|last14=Kakhlon|first14=Or|last15=Yue|first15=Wyatt W.|title=Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design|journal=Human Molecular Genetics|volume=24|issue=20|year=2015|pages=5667–5676|issn=0964-6906|doi=10.1093/hmg/ddv280}}</ref>
+* During [[glycogenesis]], the branching enzyme introduces branches to growing glycogen chains by transferring α-1,4-linked glucose monomers from the outer end of a chain into an α-1,6 position of the same or neighboring glycogen chain.<ref name="FroeseMichaeli2015">{{cite journal|last1=Froese|first1=D. Sean|last2=Michaeli|first2=Amit|last3=McCorvie|first3=Thomas J.|last4=Krojer|first4=Tobias|last5=Sasi|first5=Meitav|last6=Melaev|first6=Esther|last7=Goldblum|first7=Amiram|last8=Zatsepin|first8=Maria|last9=Lossos|first9=Alexander|last10=Álvarez|first10=Rafael|last11=Escribá|first11=Pablo V.|last12=Minassian|first12=Berge A.|last13=von Delft|first13=Frank|last14=Kakhlon|first14=Or|last15=Yue|first15=Wyatt W.|title=Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design|journal=Human Molecular Genetics|volume=24|issue=20|year=2015|pages=5667–5676|issn=0964-6906|doi=10.1093/hmg/ddv280}}</ref>
-* Deficiency of GBE affects the branching process, yielding a polysaccharide which has fewer branching points and longer outer chains, thus resembling amylopectin. This new amylopectin-like structure is also known as polyglucosan.<ref name="pmid15019703">{{cite journal |vauthors=Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S |title=Fatal infantile neuromuscular presentation of glycogen storage disease type IV |journal=Neuromuscul. Disord. |volume=14 |issue=4 |pages=253–60 |date=April 2004 |pmid=15019703 |doi=10.1016/j.nmd.2003.12.006 |url=}}</ref>
+* Deficiency of GBE affects the branching process, yielding a [[polysaccharide]] which has fewer branching points and longer outer chains, thus resembling [[amylopectin]]. This new amylopectin-like structure is also known as polyglucosan.<ref name="pmid15019703">{{cite journal |vauthors=Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S |title=Fatal infantile neuromuscular presentation of glycogen storage disease type IV |journal=Neuromuscul. Disord. |volume=14 |issue=4 |pages=253–60 |date=April 2004 |pmid=15019703 |doi=10.1016/j.nmd.2003.12.006 |url=}}</ref>
 * The enzyme deficiency affects all the bodily tissues; but liver, heart, skeletal muscles, and the nervous system are mostly affected.
-* The abnormally branched glycogen accumulates as intracytoplasmic non membrane-bound inclusions in hepatocytes, myocytes, and neuromuscular system; where it increases osmotic pressure within cells, causing cellular swelling and death.<ref name="pmid8463281">{{cite journal |vauthors=Thon VJ, Khalil M, Cannon JF |title=Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast |journal=J. Biol. Chem. |volume=268 |issue=10 |pages=7509–13 |date=April 1993 |pmid=8463281 |doi= |url=}}</ref>
+* The abnormally branched glycogen accumulates as intra-cytoplasmic non membrane-bound inclusions in [[Hepatocyte|hepatocytes]], [[myocytes]], and [[neuromuscular]] system; where it increases [[Osmosis|osmotic]] pressure within cells, causing cellular swelling and death.<ref name="pmid8463281">{{cite journal |vauthors=Thon VJ, Khalil M, Cannon JF |title=Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast |journal=J. Biol. Chem. |volume=268 |issue=10 |pages=7509–13 |date=April 1993 |pmid=8463281 |doi= |url=}}</ref>
-* The altered structure also renders glycogen to become less soluble, and this is thought to lead into a foreign body reaction causing fibrosis, and finally culminating in liver failure. <ref name="Howell1991">{{cite journal|last1=Howell|first1=R. Rodney|title=Continuing Lessons from Glycogen Storage Diseases|journal=New England Journal of Medicine|volume=324|issue=1|year=1991|pages=55–56|issn=0028-4793|doi=10.1056/NEJM199101033240111}}</ref>
+* The altered structure also renders glycogen to become less soluble, and this is thought to lead into a foreign body reaction causing [[fibrosis]], and finally culminating in [[Hepatic failure|liver failure]]. <ref name="Howell1991">{{cite journal|last1=Howell|first1=R. Rodney|title=Continuing Lessons from Glycogen Storage Diseases|journal=New England Journal of Medicine|volume=324|issue=1|year=1991|pages=55–56|issn=0028-4793|doi=10.1056/NEJM199101033240111}}</ref>
-* In skeletal muscle, accumulation leads to muscle weakness, fatigue, exercise intolerance, and muscular atrophy.National Organization for Rare Disorders (NORD): rarediseases.org/rare-diseases/andersen-disease-gsd-iv/
+* In skeletal muscle, accumulation leads to muscle weakness, [[fatigue]], exercise intolerance, and muscular [[atrophy]].<ref name="urlAndersen Disease (GSD IV) - NORD (National Organization for Rare Disorders)">{{cite web |url=https://rarediseases.org/rare-diseases/andersen-disease-gsd-iv/ |title=Andersen Disease (GSD IV) - NORD (National Organization for Rare Disorders) |format= |work= |accessdate=}}</ref>
-* The heart may be affected with a wide spectrum of cardiomyopathy; from dilated to hypertrophic and from asymptomatic to decompensated heart failure may occur.<ref name="AksuColak2012">{{cite journal|last1=Aksu|first1=Tolga|last2=Colak|first2=Ayse|last3=Tufekcioglu|first3=Omac|title=Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum|journal=Case Reports in Medicine|volume=2012|year=2012|pages=1–4|issn=1687-9627|doi=10.1155/2012/764286}}</ref>
+* The heart may be affected with a wide spectrum of [[cardiomyopathy]]; from dilated to hypertrophic and from asymptomatic to [[decompensated heart failure]] may occur.<ref name="AksuColak2012">{{cite journal|last1=Aksu|first1=Tolga|last2=Colak|first2=Ayse|last3=Tufekcioglu|first3=Omac|title=Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum|journal=Case Reports in Medicine|volume=2012|year=2012|pages=1–4|issn=1687-9627|doi=10.1155/2012/764286}}</ref>
-* Although exact mechanism for this pathology is not known, glycogen deposition in the myocardium is thought to initiate signaling pathways which cause sarcomeric hypertrophy, resulting in hypertrophic cardiomyopathy.<ref name="WatkinsSchwartz2011">{{cite journal|last1=Watkins|first1=Hugh|last2=Schwartz|first2=Robert S.|last3=Ashrafian|first3=Houman|last4=Redwood|first4=Charles|title=Inherited Cardiomyopathies|journal=New England Journal of Medicine|volume=364|issue=17|year=2011|pages=1643–1656|issn=0028-4793|doi=10.1056/NEJMra0902923}}</ref>
+* Although exact mechanism for this [[pathology]] is not known, glycogen deposition in the [[myocardium]] is thought to initiate signaling pathways which cause [[Sarcomere|sarcomeric]] [[Hypertrophy (medical)|hypertrophy]], resulting in [[hypertrophic cardiomyopathy]].<ref name="WatkinsSchwartz2011">{{cite journal|last1=Watkins|first1=Hugh|last2=Schwartz|first2=Robert S.|last3=Ashrafian|first3=Houman|last4=Redwood|first4=Charles|title=Inherited Cardiomyopathies|journal=New England Journal of Medicine|volume=364|issue=17|year=2011|pages=1643–1656|issn=0028-4793|doi=10.1056/NEJMra0902923}}</ref>
+[[File:GSD TYPE IV.png|center|800px|frame| Metabolic pathways showing defects in various glycogen storage diseases, (ɔ) Image courtesy of WikiDoc.org, by '''"[[User:Anmol Pitliya|Dr. Anmol Pitliya]]"''']]
+=== Adult Polyglucosan Body Disease (APBD) ===
+* Adult polyglucosan body disease is one of the neuromuscular variant of GSD type IV.
+* It is a late-onset, slowly progressive disorder of the nervous system GBE deficiency in a subgroup of patients of Ashkenazi Jewish origin.<ref name="pmid9851430">{{cite journal |vauthors=Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z, Shpitzen S, Meiner V |title=Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene |journal=Ann. Neurol. |volume=44 |issue=6 |pages=867–72 |date=December 1998 |pmid=9851430 |doi=10.1002/ana.410440604 |url=}}</ref>
+* Typically, the first clinical manifestation is of [[urinary incontinence]] secondary to [[neurogenic bladder]].<ref name="pmid23034915">{{cite journal |vauthors=Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A |title=Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings |journal=Ann. Neurol. |volume=72 |issue=3 |pages=433–41 |date=September 2012 |pmid=23034915 |pmc=4329926 |doi=10.1002/ana.23598 |url=}}</ref>
+* This is followed by gait disturbance (due to [[spastic paraplegia]]) and lower limb [[Paresthesia|paresthesias]].<ref name="pmid230349152">{{cite journal |vauthors=Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A |title=Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings |journal=Ann. Neurol. |volume=72 |issue=3 |pages=433–41 |date=September 2012 |pmid=23034915 |pmc=4329926 |doi=10.1002/ana.23598 |url=}}</ref>
+* Patients deteriorate slowly over years and lose ability to ambulate independently, and develop [[paralysis]] of the upper limbs as well.<ref name="pmid230349152" />
+* Progressive [[dementia]] is also seen in these patients.<ref name="pmid8274116">{{cite journal |vauthors=Rifai Z, Klitzke M, Tawil R, Kazee AM, Shanske S, DiMauro S, Griggs RC |title=Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction |journal=Arch. Neurol. |volume=51 |issue=1 |pages=90–4 |date=January 1994 |pmid=8274116 |doi= |url=}}</ref>
+* The pathological hallmark of the disorder is the widespread accumulation of round, [[Intracellular|intracellula]]<nowiki/>r polyglucosan bodies throughout the [[nervous system]], which are confined to neuronal and [[Astrocyte|astrocytic]] processes.<ref>https://www.omim.org/entry/232500?search=glycogen%20storage%20disease%204&highlight=glycogenic%20storage%20disease%20glycogen%204</ref>
+* The disease often leads to premature death.<ref name="pmid230349154">{{cite journal |vauthors=Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A |title=Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings |journal=Ann. Neurol. |volume=72 |issue=3 |pages=433–41 |date=September 2012 |pmid=23034915 |pmc=4329926 |doi=10.1002/ana.23598 |url=}}</ref>
-=== Genetics ===
-*Glycogen branching enzyme is a 702 amino acid protein encoded by GBE1 gene mapped to chromosome 3p12.2. HUGO Gene Nomenclature Committee https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:4180 The Universal Protein Resource (UniProt) http://www.uniprot.org/uniprot/Q04446
-*Mutations in the GBE1 are responsible for enzymatic deficiency, and so far 40 pathogenic variants have been identified in individuals with GSD IV or adult-onset polyglucosan body disease (APBD).<ref name="pmid23285490">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Magoulas PL, El-Hattab AW |title= |journal= |volume= |issue= |pages= |date= |pmid=23285490 |doi= |url=}}</ref>
 ==Causes==
 * The cause of GSD type IV is variable deficiency of glycogen branching enzyme (GBE).
-* The deficiency is due to various mutations of GBE1 gene encoding the single polypeptide protein.
+* The deficiency is due to various mutations of GBE1 gene encoding the single [[Polypeptide chains|polypeptide]] protein.
+* Glycogen branching enzyme is a 702 [[amino acid]] protein encoded by GBE1 gene mapped to chromosome 3p12.2.<ref name="urlGBE1 Symbol Report | HUGO Gene Nomenclature Committee">{{cite web |url=https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:4180 |title=GBE1 Symbol Report &#124; HUGO Gene Nomenclature Committee |format= |work= |accessdate=}}</ref>
+*Mutations in the GBE1 are responsible for enzymatic deficiency, and so far 40 pathogenic variants have been identified in individuals with GSD IV or adult-onset polyglucosan body disease (APBD).<ref name="pmid23285490">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Magoulas PL, El-Hattab AW |title= |journal= |volume= |issue= |pages= |date= |pmid=23285490 |doi= |url=}}</ref>
 ==Differentiating from Other Diseases==
-* Comparisons may be useful for a differential diagnosis as a number of other disease conditions with clinical features may present similar to those associated with GSD Type IV.
+* Comparisons may be useful for a differential diagnosis as a number of other disease conditions with clinical features may present similar to those associated with GSD type IV.
-* Presenting as hepatomegaly in infancy, the following glycogen metabolism disorders should be differentiated from GSD Type IV;
+* Presenting as hepatomegaly in infancy, the following glycogen metabolism disorders should be differentiated from GSD type IV;
-** GSD Type I
+** [[Glycogen storage disease type I]]
-** GSD Type III
+** [[Glycogen storage disease type III]]
-** GSD Type VI
+** [[Glycogen storage disease type VI]]
-** Hepatic Phosphorylase b Kinase Deficiency
+** [[Glycogen storage disease type IX]]
 * Metabolic disorders presenting with muscle weakness/myopathy during infancy should also be considered;
-** Muscle glycogen synthase deficiency (GSD0b)
+** [[Glycogen storage disease|Glycogen storage disease type 0b]]
-** Lysosomal acid maltase deficiency (GSD II)
+** [[Glycogen storage disease type II]]
-** Glycogen debrancher deficiency (GSD III)
+** [[Glycogen storage disease type III|Glycogen storage disease type III]]
-** Muscle phosphorylase deficiency (GSD V)
+** [[Glycogen storage disease type V]]
-** Aldolase A deficiency (GSD XII)
+** [[Glycogen storage disease|Glycogen storage disease type XII]]
-** Glycogenin-1 deficiency (GSD XV)
+{|
+! colspan="15" style="background:#4479BA; color: #FFFFFF;" align="center" + | Differentiating Glycogen Storage Diseases
+|-
+! colspan="3" rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Glycogen storage disease
+! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Enzyme deficiency
+! colspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Genetics
+! colspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |History and symptoms
+! colspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Physical examination
+! style="background:#4479BA; color: #FFFFFF;" align="center" + |Laboratory findings
+! style="background:#4479BA; color: #FFFFFF;" align="center" + |Imaging
+! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Other features
+|-
+! style="background:#4479BA; color: #FFFFFF;" align="center" + |Gene mutation
+! style="background:#4479BA; color: #FFFFFF;" align="center" + |Inheritance
+! style="background:#4479BA; color: #FFFFFF;" align="center" + |Chromosome
+! style="background:#4479BA; color: #FFFFFF;" align="center" + |Hypoglycemia
+! style="background:#4479BA; color: #FFFFFF;" align="center" + |Muscle weakness
+! style="background:#4479BA; color: #FFFFFF;" align="center" + |Hypotonia
+! style="background:#4479BA; color: #FFFFFF;" align="center" + |Hepatomegaly
+! style="background:#4479BA; color: #FFFFFF;" align="center" + |Elevated CK
+! style="background:#4479BA; color: #FFFFFF;" align="center" + |Cardiomegaly
+|-
+| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type I|'''Glycogen storage disease type I''']]<ref name="pmid10322403">{{cite journal| author=Mansfield BC| title=Molecular Genetics of Type 1 Glycogen Storage Diseases. | journal=Trends Endocrinol Metab | year= 1999 | volume= 10 | issue= 3 | pages= 104-113 | pmid=10322403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10322403  }} </ref><ref name="pmid17552001">{{cite journal| author=Ozen H| title=Glycogen storage diseases: new perspectives. | journal=World J Gastroenterol | year= 2007 | volume= 13 | issue= 18 | pages= 2541-53 | pmid=17552001 | doi= | pmc=4146814 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17552001  }} </ref><ref name="pmid21599942">{{cite journal| author=Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A et al.| title=Glucose-6-phosphatase deficiency. | journal=Orphanet J Rare Dis | year= 2011 | volume= 6 | issue=  | pages= 27 | pmid=21599942 | doi=10.1186/1750-1172-6-27 | pmc=3118311 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21599942  }} </ref><ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref><ref name="pmid12373567">{{cite journal |vauthors=Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP |title=Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I) |journal=Eur. J. Pediatr. |volume=161 Suppl 1 |issue= |pages=S20–34 |year=2002 |pmid=12373567 |doi=10.1007/s00431-002-0999-4 |url=}}</ref><ref>Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/</ref><ref>{{cite book | last = Griggs | first = Robert | title = Evaluation and treatment of myopathies | publisher = Oxford University Press | location = Oxford | year = 2014 | isbn = 9780199873944 }}</ref>
+| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Von Gierke's disease|'''Von Gierke's disease''']]
+| style="background:#DCDCDC;" align="center" + |'''GSD type Ia'''
+| style="background:#F5F5F5;" align="center" + |[[Glucose-6-phosphatase]]
+| style="background:#F5F5F5;" align="center" + |[[G6PC]] [[gene mutation]]
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| style="background:#F5F5F5;" align="center" + |17q21
+| rowspan="2" style="background:#F5F5F5;" align="center" + | +
+| rowspan="2" style="background:#F5F5F5;" align="center" + | +
+| rowspan="2" style="background:#F5F5F5;" align="center" + | +
+| rowspan="2" style="background:#F5F5F5;" align="center" + | +
+| rowspan="2" style="background:#F5F5F5;" align="center" + | -
+| rowspan="2" style="background:#F5F5F5;" align="center" + | -
+| rowspan="2" style="background:#F5F5F5;" + |
+* [[Lactic acidosis]]
+* [[Hyperlipidemia]]
+* [[Hyperuricemia]]
+|-
+| style="background:#DCDCDC;" align="center" + |'''GSD type Ib'''
+| style="background:#F5F5F5;" align="center" + | [[Microsomal]] [[glucose-6-phosphate]] [[Membrane transport protein|transporter]]
+| style="background:#F5F5F5;" align="center" + | [[SLC37A4]] [[gene mutation]]
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| style="background:#F5F5F5;" align="center" + |11q23
+|-
+| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type II|'''Glycogen storage disease type II''']]<ref>Leslie N, Bailey L. Pompe Disease. 2007 Aug 31 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1261/</ref><ref name="pmid17915568">{{cite journal| author=Di Rocco M, Buzzi D, Tarò M| title=Glycogen storage disease type II: clinical overview. | journal=Acta Myol | year= 2007 | volume= 26 | issue= 1 | pages= 42-4 | pmid=17915568 | doi= | pmc=2949314 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17915568  }} </ref><ref name="pmid16737883">{{cite journal| author=Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al.| title=A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. | journal=J Pediatr | year= 2006 | volume= 148 | issue= 5 | pages= 671-676 | pmid=16737883 | doi=10.1016/j.jpeds.2005.11.033 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16737883  }} </ref><ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283  }} </ref><ref name="pmid10931430">{{cite journal| author=Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F| title=Identification of two subtypes of infantile acid maltase deficiency. | journal=J Pediatr | year= 2000 | volume= 137 | issue= 2 | pages= 283-5 | pmid=10931430 | doi=10.1067/mpd.2000.107112 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10931430  }} </ref><ref name="pmid2111708">{{cite journal| author=Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R| title=Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences. | journal=DNA Cell Biol | year= 1990 | volume= 9 | issue= 2 | pages= 85-94 | pmid=2111708 | doi=10.1089/dna.1990.9.85 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2111708  }} </ref><ref name="pmid3049072">{{cite journal| author=Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJ, Oostra BA| title=Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. | journal=EMBO J | year= 1988 | volume= 7 | issue= 6 | pages= 1697-704 | pmid=3049072 | doi= | pmc=457155 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3049072  }} </ref><ref name="pmid2268276">{{cite journal| author=Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA| title=Characterization of the human lysosomal alpha-glucosidase gene. | journal=Biochem J | year= 1990 | volume= 272 | issue= 2 | pages= 493-7 | pmid=2268276 | doi= | pmc=1149727 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2268276  }} </ref><ref name="pmid8786092">{{cite journal| author=Kuo WL, Hirschhorn R, Huie ML, Hirschhorn K| title=Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization. | journal=Hum Genet | year= 1996 | volume= 97 | issue= 3 | pages= 404-6 | pmid=8786092 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8786092  }} </ref>
+| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Pompe disease|'''Pompe disease''']]
+| style="background:#DCDCDC;" align="center" + |'''Infantile onset'''
+| rowspan="2" style="background:#F5F5F5;" align="center" + |[[Acid alpha-glucosidase]]
+| rowspan="2" style="background:#F5F5F5;" align="center" + |GAA gene
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| rowspan="2" style="background:#F5F5F5;" align="center" + |17q25
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | +
+| rowspan="2" style="background:#F5F5F5;" + |
+* Elevated [[LDH]]
+* Elevated [[liver aminotransferases]]
+* Elevated urinary glc4
+|-
+| style="background:#DCDCDC;" align="center" + |'''Late onset'''
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | +/-
+|-
+| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type III|'''Glycogen storage disease type III''']]<ref name="pmid8755644">{{cite journal| author=Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT| title=Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. | journal=J Clin Invest | year= 1996 | volume= 98 | issue= 2 | pages= 352-7 | pmid=8755644 | doi=10.1172/JCI118799 | pmc=507437 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8755644  }} </ref><ref name="pmid2295969">{{cite journal| author=Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT| title=Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. | journal=J Pediatr | year= 1990 | volume= 116 | issue= 1 | pages= 95-100 | pmid=2295969 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2295969  }} </ref><ref name="pmid19834502">{{cite journal| author=Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T et al.| title=Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. | journal=J Hum Genet | year= 2009 | volume= 54 | issue= 11 | pages= 681-6 | pmid=19834502 | doi=10.1038/jhg.2009.100 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19834502  }} </ref><ref name="KishnaniAustin2010">{{cite journal|last1=Kishnani|first1=Priya S|last2=Austin|first2=Stephanie L|last3=Arn|first3=Pamela|last4=Bali|first4=Deeksha S|last5=Boney|first5=Anne|last6=Case|first6=Laura E|last7=Chung|first7=Wendy K|last8=Desai|first8=Dev M|last9=El-Gharbawy|first9=Areeg|last10=Haller|first10=Ronald|last11=Smit|first11=G Peter A|last12=Smith|first12=Alastair D|last13=Hobson-Webb|first13=Lisa D|last14=Wechsler|first14=Stephanie Burns|last15=Weinstein|first15=David A|last16=Watson|first16=Michael S|title=Glycogen Storage Disease Type III diagnosis and management guidelines|journal=Genetics in Medicine|volume=12|issue=7|year=2010|pages=446–463|issn=1098-3600|doi=10.1097/GIM.0b013e3181e655b6}}</ref><ref>Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/</ref><ref name="pmid12618563">{{cite journal| author=Wolfsdorf JI, Weinstein DA| title=Glycogen storage diseases. | journal=Rev Endocr Metab Disord | year= 2003 | volume= 4 | issue= 1 | pages= 95-102 | pmid=12618563 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12618563  }} </ref>
+| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Cori disease|'''Cori disease''']]
+| style="background:#DCDCDC;" align="center" + |'''GSD type IIIa'''
+| style="background:#F5F5F5;" align="center" + |[[Debranching enzyme]] (deficiency in muscle and liver)
+| rowspan="2" style="background:#F5F5F5;" align="center" + |AGL [[gene mutation]]
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| rowspan="2" style="background:#F5F5F5;" align="center" + |1p21
+| rowspan="2" style="background:#F5F5F5;" align="center" + | +
+| rowspan="2" style="background:#F5F5F5;" align="center" + | +
+| rowspan="2" style="background:#F5F5F5;" align="center" + | +
+| rowspan="2" style="background:#F5F5F5;" align="center" + | +
+| rowspan="2" style="background:#F5F5F5;" align="center" + | +
+| rowspan="2" style="background:#F5F5F5;" align="center" + | +
+| rowspan="2" style="background:#F5F5F5;" + |
+* [[Ketosis]]
+* [[Hyperlipidemia]]
+* Elevated [[liver aminotransferases]]
+|-
+| style="background:#DCDCDC;" align="center" + |'''GSD type IIIb'''
+| style="background:#F5F5F5;" align="center" + |[[Debranching enzyme]] (deficiency in liver only)
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+|-
+| style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type IV|'''Glycogen storage disease type IV''']]<ref name="pmid15452297">{{cite journal| author=Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA et al.| title=Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). | journal=Neurology | year= 2004 | volume= 63 | issue= 6 | pages= 1053-8 | pmid=15452297 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15452297  }} </ref><ref name="pmid17915577">{{cite journal| author=Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S| title=Neuromuscular forms of glycogen branching enzyme deficiency. | journal=Acta Myol | year= 2007 | volume= 26 | issue= 1 | pages= 75-8 | pmid=17915577 | doi= | pmc=2949312 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17915577  }} </ref><ref name="pmid5229990">{{cite journal| author=Brown BI, Brown DH| title=Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. | journal=Proc Natl Acad Sci U S A | year= 1966 | volume= 56 | issue= 2 | pages= 725-9 | pmid=5229990 | doi= | pmc=224432 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5229990  }} </ref><ref name="pmid8830177">{{cite journal| author=McConkie-Rosell A, Wilson C, Piccoli DA, Boyle J, DeClue T, Kishnani P et al.| title=Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. | journal=J Inherit Metab Dis | year= 1996 | volume= 19 | issue= 1 | pages= 51-8 | pmid=8830177 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8830177  }} </ref><ref>Magoulas PL, El-Hattab AW. Glycogen Storage Disease Type IV. 2013 Jan 3. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK115333/</ref>
+| colspan="2" style="background:#DCDCDC;" align="center" + |[[Andersen's disease|'''Andersen's disease''']]
+| style="background:#F5F5F5;" align="center" + |Branching enzyme
+| style="background:#F5F5F5;" align="center" + | GBE1 gene mutation
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| style="background:#F5F5F5;" align="center" + |3p12
+| style="background:#F5F5F5;" align="center" + | +/-
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+|-
+| style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type V|'''Glycogen storage disease type V''']]<ref name="pmid24540673">{{cite journal| author=McARDLE B| title=Myopathy due to a defect in muscle glycogen breakdown. | journal=Clin Sci | year= 1951 | volume= 10 | issue= 1 | pages= 13-35 | pmid=24540673 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24540673  }} </ref><ref name="pmid14442994">{{cite journal| author=SCHMID R, MAHLER R| title=Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. | journal=J Clin Invest | year= 1959 | volume= 38 | issue=  | pages= 2044-58 | pmid=14442994 | doi=10.1172/JCI103983 | pmc=441792 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14442994  }} </ref><ref name="pmid16590445">{{cite journal| author=Mommaerts WF, Illingworth B, Pearson CM, Guillory RJ, Seraydarian K| title=A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE. | journal=Proc Natl Acad Sci U S A | year= 1959 | volume= 45 | issue= 6 | pages= 791-7 | pmid=16590445 | doi= | pmc=222638 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16590445  }} </ref><ref name="pmid13733779">{{cite journal| author=PEARSON CM, RIMER DG, MOMMAERTS WF| title=A metabolic myopathy due to absence of muscle phosphorylase. | journal=Am J Med | year= 1961 | volume= 30 | issue=  | pages= 502-17 | pmid=13733779 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13733779  }} </ref><ref name="pmid4502558">{{cite journal| author=Grünfeld JP, Ganeval D, Chanard J, Fardeau M, Dreyfus JC| title=Acute renal failure in McArdle's disease. Report of two cases. | journal=N Engl J Med | year= 1972 | volume= 286 | issue= 23 | pages= 1237-41 | pmid=4502558 | doi=10.1056/NEJM197206082862304 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4502558  }} </ref><ref name="pmid3476861">{{cite journal| author=Schmidt B, Servidei S, Gabbai AA, Silva AC, de Sousa Bulle de Oliveira A, DiMauro S| title=McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote. | journal=Neurology | year= 1987 | volume= 37 | issue= 9 | pages= 1558-61 | pmid=3476861 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3476861  }} </ref><ref>Martín MA, Lucía A, Arenas J, et al. Glycogen Storage Disease Type V. 2006 Apr 19 [Updated 2014 Jun 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1344/</ref>
+| colspan="2" style="background:#DCDCDC;" align="center" + |[[McArdle disease|'''McArdle disease''']]
+| style="background:#F5F5F5;" align="center" + |Muscle [[glycogen phosphorylase]]
+| style="background:#F5F5F5;" align="center" + |PYGM gene mutation
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| style="background:#F5F5F5;" align="center" + |11q13
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" + |
+* [[Myoglobinuria]], may result in [[renal failure]]
+|-
+| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type VI|'''Glycogen storage disease type VI''']]<ref name="pmid5904467">{{cite journal| author=Wallis PG, Sidbury JB, Harris RC| title=Hepatic phosphorylase defect. Studies on peripheral blood. | journal=Am J Dis Child | year= 1966 | volume= 111 | issue= 3 | pages= 278-82 | pmid=5904467 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5904467  }} </ref><ref name="pmid25266922">{{cite journal| author=Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J et al.| title=The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. | journal=Mol Genet Metab | year= 2014 | volume= 113 | issue= 3 | pages= 171-6 | pmid=25266922 | doi=10.1016/j.ymgme.2014.09.005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25266922  }} </ref><ref name="pmid9529348">{{cite journal| author=Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW| title=Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. | journal=Am J Hum Genet | year= 1998 | volume= 62 | issue= 4 | pages= 785-91 | pmid=9529348 | doi= | pmc=1377030 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9529348  }} </ref><ref name="pmid9536091">{{cite journal| author=Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG| title=Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. | journal=Hum Mol Genet | year= 1998 | volume= 7 | issue= 5 | pages= 865-70 | pmid=9536091 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9536091  }} </ref><ref>Dagli AI, Weinstein DA. Glycogen Storage Disease Type VI. 2009 Apr 23 [Updated 2011 May 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK5941/</ref>
+| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Hers' disease|'''Hers' disease''']]
+| style="background:#DCDCDC;" align="center" + |'''Autosomal'''
+| rowspan="2" style="background:#F5F5F5;" align="center" + |Liver [[glycogen phosphorylase]]
+| style="background:#F5F5F5;" align="center" + | PYGL gene mutation
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| style="background:#F5F5F5;" align="center" + |14q22
+| rowspan="2" style="background:#F5F5F5;" align="center" + | +/-
+| rowspan="2" style="background:#F5F5F5;" align="center" + | +
+| rowspan="2" style="background:#F5F5F5;" align="center" + | +/-
+| rowspan="2" style="background:#F5F5F5;" align="center" + | +
+| rowspan="2" style="background:#F5F5F5;" align="center" + | -
+| rowspan="2" style="background:#F5F5F5;" align="center" + | -
+| rowspan="2" style="background:#F5F5F5;" + |
+* [[Hyperlipidemia]]
+* Elevated [[liver aminotransferases]]
+|-
+| style="background:#DCDCDC;" align="center" + |'''X-linked'''
+| style="background:#F5F5F5;" align="center" + | PYGL gene mutation
+| style="background:#F5F5F5;" align="center" + |[[X-linked recessive]]
+| style="background:#F5F5F5;" align="center" + |X
+|-
+| style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type VII|'''Glycogen storage disease type VII''']]<ref name="pmid7550225">{{cite journal| author=Raben N, Sherman JB| title=Mutations in muscle phosphofructokinase gene. | journal=Hum Mutat | year= 1995 | volume= 6 | issue= 1 | pages= 1-6 | pmid=7550225 | doi=10.1002/humu.1380060102 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7550225  }} </ref><ref name="pmid14339001">{{cite journal| author=TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M| title=PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS. | journal=Biochem Biophys Res Commun | year= 1965 | volume= 19 | issue=  | pages= 517-23 | pmid=14339001 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14339001  }} </ref><ref name="pmid4228297">{{cite journal| author=Layzer RB, Rowland LP, Ranney HM| title=Muscle phosphofructokinase deficiency. | journal=Arch Neurol | year= 1967 | volume= 17 | issue= 5 | pages= 512-23 | pmid=4228297 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4228297  }} </ref><ref name="pmid4228753">{{cite journal| author=Satoyoshi E, Kowa H| title=A myopathy due to glycolytic abnormality. | journal=Arch Neurol | year= 1967 | volume= 17 | issue= 3 | pages= 248-56 | pmid=4228753 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4228753  }} </ref><ref name="pmid4258222">{{cite journal| author=Waterbury L, Frenkel EP| title=Hereditary nonspherocytic hemolysis with erythrocyte phosphofructokinase deficiency. | journal=Blood | year= 1972 | volume= 39 | issue= 3 | pages= 415-25 | pmid=4258222 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4258222  }} </ref><ref name="pmid6444532">{{cite journal| author=Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S| title=The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. | journal=Blood | year= 1980 | volume= 55 | issue= 4 | pages= 629-35 | pmid=6444532 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6444532  }} </ref>
+| colspan="2" style="background:#DCDCDC;" align="center" + |[[Tarui's disease|'''Tarui's disease''']]
+| style="background:#F5F5F5;" align="center" + |Muscle [[phosphofructokinase]]
+| style="background:#F5F5F5;" align="center" + |PFKM gene mutation
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| style="background:#F5F5F5;" align="center" + |12q13
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" + |
+* [[Reticulocyte|Reticulocytosis]]
+* [[Hyperuricemia]]
+* [[Myoglobinuria]]
+* [[Hemolytic anemia]]
+|-
+| colspan="2" rowspan="2" style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type IX'''<ref name="pmid17689125">{{cite journal| author=Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P et al.| title=Glycogen storage disease type IX: High variability in clinical phenotype. | journal=Mol Genet Metab | year= 2007 | volume= 92 | issue= 1-2 | pages= 88-99 | pmid=17689125 | doi=10.1016/j.ymgme.2007.06.007 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17689125  }} </ref><ref name="pmid25266922">{{cite journal| author=Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J et al.| title=The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. | journal=Mol Genet Metab | year= 2014 | volume= 113 | issue= 3 | pages= 171-6 | pmid=25266922 | doi=10.1016/j.ymgme.2014.09.005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25266922  }} </ref><ref>Goldstein J, Austin S, Kishnani P, et al. Phosphorylase Kinase Deficiency. 2011 May 31. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55061/</ref>
+| style="background:#DCDCDC;" align="center" + |'''GSD type IXa'''<ref name="pmid3859203">{{cite journal| author=Keating JP, Brown BI, White NH, DiMauro S| title=X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation. | journal=Am J Dis Child | year= 1985 | volume= 139 | issue= 6 | pages= 609-13 | pmid=3859203 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3859203  }} </ref><ref name="pmid7959740">{{cite journal| author=Hendrickx J, Coucke P, Hors-Cayla MC, Smit GP, Shin YS, Deutsch J et al.| title=Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2). | journal=Genomics | year= 1994 | volume= 21 | issue= 3 | pages= 620-5 | pmid=7959740 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7959740  }} </ref><ref name="pmid4518931">{{cite journal| author=Schimke RN, Zakheim RM, Corder RC, Hug G| title=Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. | journal=J Pediatr | year= 1973 | volume= 83 | issue= 6 | pages= 1031-4 | pmid=4518931 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4518931  }} </ref><ref name="pmid2303074">{{cite journal| author=Willems PJ, Gerver WJ, Berger R, Fernandes J| title=The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. | journal=Eur J Pediatr | year= 1990 | volume= 149 | issue= 4 | pages= 268-71 | pmid=2303074 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2303074  }} </ref><ref name="pmid9835437">{{cite journal| author=Hendrickx J, Bosshard NU, Willems P, Gitzelmann R| title=Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years. | journal=Eur J Pediatr | year= 1998 | volume= 157 | issue= 11 | pages= 919-23 | pmid=9835437 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9835437  }} </ref>
+| style="background:#F5F5F5;" align="center" + |Phosphorylase b kinase (deficiency in liver only)
+| style="background:#F5F5F5;" align="center" + |[[PHKA2]] gene mutation
+| style="background:#F5F5F5;" align="center" + |[[X-linked recessive]]
+| style="background:#F5F5F5;" align="center" + |Xp22
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" + |
+* [[Hyperlipidemia]]
+* Elevated [[liver aminotransferases]]
+* [[Hyperuricemia]]
+* Fasting [[ketosis]]
+|-
+| style="background:#DCDCDC;" align="center" + |'''GSD type IXb'''<ref name="pmid6938920">{{cite journal| author=Bashan N, Iancu TC, Lerner A, Fraser D, Potashnik R, Moses SW| title=Glycogenosis due to liver and muscle phosphorylase kinase deficiency. | journal=Pediatr Res | year= 1981 | volume= 15 | issue= 4 Pt 1 | pages= 299-303 | pmid=6938920 | doi=10.1203/00006450-198104000-00002 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6938920  }} </ref><ref name="pmid6422139">{{cite journal| author=Gray RG, Kumar D, Whitfield AE| title=Glycogen phosphorylase b kinase deficiency in three siblings. | journal=J Inherit Metab Dis | year= 1983 | volume= 6 | issue= 3 | pages= 107 | pmid=6422139 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6422139  }} </ref><ref name="pmid9215682">{{cite journal| author=Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS et al.| title=Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). | journal=Hum Mol Genet | year= 1997 | volume= 6 | issue= 7 | pages= 1109-15 | pmid=9215682 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9215682  }} </ref>
+| style="background:#F5F5F5;" align="center" + |Phosphorylase b kinase (deficiency in liver and muscle)
+| style="background:#F5F5F5;" align="center" + |[[PHKB]] gene mutation
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| style="background:#F5F5F5;" align="center" + |16q12
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" + |
+* [[Hyperlipidemia]]
+* Elevated [[liver aminotransferases]]
+|-
+| colspan="3" style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type X'''<ref name="pmid10545043">{{cite journal| author=Hadjigeorgiou GM, Kawashima N, Bruno C, Andreu AL, Sue CM, Rigden DJ et al.| title=Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. | journal=Neuromuscul Disord | year= 1999 | volume= 9 | issue= 6-7 | pages= 399-402 | pmid=10545043 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10545043  }} </ref><ref name="pmid8447317">{{cite journal| author=Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S| title=The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. | journal=Am J Hum Genet | year= 1993 | volume= 52 | issue= 3 | pages= 472-7 | pmid=8447317 | doi= | pmc=1682163 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8447317  }} </ref><ref name="pmid2987758">{{cite journal| author=Kissel JT, Beam W, Bresolin N, Gibbons G, DiMauro S, Mendell JR| title=Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test. | journal=Neurology | year= 1985 | volume= 35 | issue= 6 | pages= 828-33 | pmid=2987758 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2987758  }} </ref><ref name="pmid6262916">{{cite journal| author=DiMauro S, Miranda AF, Khan S, Gitlin K, Friedman R| title=Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. | journal=Science | year= 1981 | volume= 212 | issue= 4500 | pages= 1277-9 | pmid=6262916 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6262916  }} </ref>
+| style="background:#F5F5F5;" align="center" + |[[Phosphoglycerate mutase]]
+| style="background:#F5F5F5;" align="center" + |[[PGAM2]] gene mutation
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| style="background:#F5F5F5;" align="center" + |7p13
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" + |
+* [[Myoglobinuria]]
+* [[Gout]] (tophy)
+* Severe [[coronary]] [[arteriosclerosis]]
+|-
+| style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type XI'''<ref name="pmid3789777">{{cite journal| author=Yoshikuni K, Tagami H, Yamada M, Sudo K, Kanno T| title=Erythematosquamous skin lesions in hereditary lactate dehydrogenase M-subunit deficiency. | journal=Arch Dermatol | year= 1986 | volume= 122 | issue= 12 | pages= 1420-4 | pmid=3789777 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3789777  }} </ref><ref name="pmid3383424">{{cite journal| author=Kanno T, Sudo K, Maekawa M, Nishimura Y, Ukita M, Fukutake K| title=Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy. | journal=Clin Chim Acta | year= 1988 | volume= 173 | issue= 1 | pages= 89-98 | pmid=3383424 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3383424  }} </ref><ref name="pmid3092644">{{cite journal| author=Maekawa M, Sudo K, Kanno T| title=Immunochemical studies on lactate dehydrogenase A subunit deficiencies. | journal=Am J Hum Genet | year= 1986 | volume= 39 | issue= 2 | pages= 232-8 | pmid=3092644 | doi= | pmc=1683931 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3092644  }} </ref><ref name="pmid1999544">{{cite journal| author=Takayasu S, Fujiwara S, Waki T| title=Hereditary lactate dehydrogenase M-subunit deficiency: lactate dehydrogenase activity in skin lesions and in hair follicles. | journal=J Am Acad Dermatol | year= 1991 | volume= 24 | issue= 2 Pt 2 | pages= 339-42 | pmid=1999544 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1999544  }} </ref>
+| colspan="2" style="background:#DCDCDC;" align="center" + |'''Lactate dehydrogenase A deficiency'''
+| style="background:#F5F5F5;" align="center" + |[[Lactate dehydrogenase A]]
+| style="background:#F5F5F5;" align="center" + |LDHA gene mutation
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| style="background:#F5F5F5;" align="center" + |11p15
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" + |
+* Muscle [[stiffness]]
+* [[Lactic acidosis]]
+* [[Myoglobinuria]]
+* Easy [[fatigue]]
+|-
+| style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type XII'''<ref name="pmid2825199">{{cite journal| author=Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K| title=Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. | journal=Proc Natl Acad Sci U S A | year= 1987 | volume= 84 | issue= 23 | pages= 8623-7 | pmid=2825199 | doi= | pmc=299598 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2825199  }} </ref><ref name="pmid4788792">{{cite journal| author=Beutler E, Scott S, Bishop A, Margolis N, Matsumoto F, Kuhl W| title=Red cell aldolase deficiency and hemolytic anemia: a new syndrome. | journal=Trans Assoc Am Physicians | year= 1973 | volume= 86 | issue=  | pages= 154-66 | pmid=4788792 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4788792  }} </ref><ref name="pmid8598869">{{cite journal| author=Kreuder J, Borkhardt A, Repp R, Pekrun A, Göttsche B, Gottschalk U et al.| title=Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. | journal=N Engl J Med | year= 1996 | volume= 334 | issue= 17 | pages= 1100-4 | pmid=8598869 | doi=10.1056/NEJM199604253341705 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8598869  }} </ref><ref name="pmid3688035">{{cite journal| author=Hurst JA, Baraitser M, Winter RM| title=A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency. | journal=Am J Med Genet | year= 1987 | volume= 28 | issue= 4 | pages= 965-70 | pmid=3688035 | doi=10.1002/ajmg.1320280423 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3688035  }} </ref>
+| colspan="2" style="background:#DCDCDC;" align="center" + |'''Aldolase A deficiency'''
+| style="background:#F5F5F5;" align="center" + |[[Aldolase A]]
+| style="background:#F5F5F5;" align="center" + |ALDOA gene mutation
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| style="background:#F5F5F5;" align="center" + |16p11
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" + |
+* [[Hemolytic anemia]]
+* [[Splenomegaly]]
+|-
+| colspan="3" style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type XIII<ref name="pmid11506403">{{cite journal| author=Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S et al.| title=Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. | journal=Ann Neurol | year= 2001 | volume= 50 | issue= 2 | pages= 202-7 | pmid=11506403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11506403  }} </ref>'''
+| style="background:#F5F5F5;" align="center" + |Beta-enolase
+| style="background:#F5F5F5;" align="center" + | ENO3 gene mutation
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| style="background:#F5F5F5;" align="center" + |17p13
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+|-
+| colspan="3" style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type XIV'''<ref name="pmid24499211">{{cite journal| author=Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S et al.| title=Multiple phenotypes in phosphoglucomutase 1 deficiency. | journal=N Engl J Med | year= 2014 | volume= 370 | issue= 6 | pages= 533-42 | pmid=24499211 | doi=10.1056/NEJMoa1206605 | pmc=4373661 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24499211  }} </ref><ref name="pmid19625727">{{cite journal| author=Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G et al.| title=Muscle glycogenosis due to phosphoglucomutase 1 deficiency. | journal=N Engl J Med | year= 2009 | volume= 361 | issue= 4 | pages= 425-7 | pmid=19625727 | doi=10.1056/NEJMc0901158 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19625727  }} </ref>
+| style="background:#F5F5F5;" align="center" + |[[Phosphoglucomutase]] type 2
+| style="background:#F5F5F5;" align="center" + |[[PGM1]] gene mutation
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| style="background:#F5F5F5;" align="center" + |1p31
+| style="background:#F5F5F5;" align="center" + | +/-
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" + |
+* Elevated [[liver aminotransferases]]
+|-
+| style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type 0'''<ref name="pmid9691087">{{cite journal| author=Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blümel P et al.| title=Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. | journal=J Clin Invest | year= 1998 | volume= 102 | issue= 3 | pages= 507-15 | pmid=9691087 | doi=10.1172/JCI2890 | pmc=508911 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9691087  }} </ref><ref name="pmid12794686">{{cite journal| author=Laberge AM, Mitchell GA, van de Werve G, Lambert M| title=Long-term follow-up of a new case of liver glycogen synthase deficiency. | journal=Am J Med Genet A | year= 2003 | volume= 120A | issue= 1 | pages= 19-22 | pmid=12794686 | doi=10.1002/ajmg.a.20110 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12794686  }} </ref><ref name="pmid8831078">{{cite journal| author=Gitzelmann R, Spycher MA, Feil G, Müller J, Seilnacht B, Stahl M et al.| title=Liver glycogen synthase deficiency: a rarely diagnosed entity. | journal=Eur J Pediatr | year= 1996 | volume= 155 | issue= 7 | pages= 561-7 | pmid=8831078 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8831078  }} </ref><ref name="pmid11483824">{{cite journal| author=Rutledge SL, Atchison J, Bosshard NU, Steinmann B| title=Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia. | journal=Pediatrics | year= 2001 | volume= 108 | issue= 2 | pages= 495-7 | pmid=11483824 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11483824  }} </ref>
+| colspan="2" style="background:#DCDCDC;" align="center" + |'''Lewis' disease'''
+| style="background:#F5F5F5;" align="center" + |Hepatic [[glycogen synthase]]
+| style="background:#F5F5F5;" align="center" + |GYS2 gene mutation (liver)
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
+| style="background:#F5F5F5;" align="center" + |12p12
+| style="background:#F5F5F5;" align="center" + | +
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" align="center" + | -
+| style="background:#F5F5F5;" + |
+* Fasting [[hypoglycemia]] and [[ketosis]]
+* Postprandial [[hyperglycemia]] and [[Lactic acidosis (patient information)|lactic acidosis]]
+|}
 ==Epidemiology and Demographics==
 '''Frequency'''
-* The frequency of all glycogen storage diseases is estimated to be 1 in 20,000 to 25,000 live births, while GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals worldwide.  NORD GHR <nowiki>https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iv#statistics</nowiki>
+* The [[Incidence rate|incidence]] of GSD type IV is approximately 0.13 to 0.17 per 100,000 individuals worldwide.<ref name="urlAndersen Disease (GSD IV) - NORD (National Organization for Rare Disorders)2">{{cite web |url=https://rarediseases.org/rare-diseases/andersen-disease-gsd-iv/ |title=Andersen Disease (GSD IV) - NORD (National Organization for Rare Disorders) |format= |work= |accessdate=}}</ref> <ref name="urlGlycogen storage disease type VI - Genetics Home Reference">{{cite web |url=https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi |title=Glycogen storage disease type VI - Genetics Home Reference |format= |work= |accessdate=}}</ref>
-'''SEX'''
+'''Gender'''
-* Males and females appear to be affected in relatively equal numbers [NORD] because the deficiency of glycogen-branching enzyme activity is inherited as an autosomal-recessive trait.
+* GSD type IV affects men and women equally.<ref name="urlAndersen Disease (GSD IV) - NORD (National Organization for Rare Disorders)2" />
-'''RACE'''
+'''Race'''
-* Familial aggregation is observed in about 30% of adult polyglucosan body disease cases, especially among Ashkenazi Jewish populations. NORD
+* Adult polyglucosan body disease usually affects individuals of the Ashkenazi Jewish population. Familial aggregation is observed in about 30% of cases.<ref name="urlAndersen Disease (GSD IV) - NORD (National Organization for Rare Disorders)2" />
 ==Risk Factors==
-* As GSD type IV is an inherited disease with autosomal recessive pattern, a positive family history is a potent risk factor.
+* The most potent risk factor in the development of glycogen storage disease type IV is a sibling with glycogen storage disease type IV. <ref name=":0" />
-* Each sibling of a diseased individual has a 25% probability of being affected, a 50% probability of being a carrier, and a 25% probability of being unaffected and not a carrier. GeneReview
 ==Screening==
-* Currently, there is no screening guideline recommendation.
+* Currently, there is no screening guideline recommended.
-* In some cases, the disease may be diagnosed prenatally via chorionic villus sampling (CVS) and amniocentesis.
+* In some cases, the disease may be diagnosed prenatally via [[chorionic villus sampling]] (CVS) and [[amniocentesis]].
 === Prenatal Diagnosis ===
-* After genetic confirmation of the affected cases, future pregnancies can be monitored by determining branching enzyme activity and DNA analysis of chorionic villi or cultured amniocytes.<ref name="pmid16874838">{{cite journal |vauthors=Akman HO, Karadimas C, Gyftodimou Y, Grigoriadou M, Kokotas H, Konstantinidou A, Anninos H, Patsouris E, Thaker HM, Kaplan JB, Besharat I, Hatzikonstantinou K, Fotopoulos S, Dimauro S, Petersen MB |title=Prenatal diagnosis of glycogen storage disease type IV |journal=Prenat. Diagn. |volume=26 |issue=10 |pages=951–5 |date=October 2006 |pmid=16874838 |doi=10.1002/pd.1533 |url=}}</ref> <ref name="pmid2521770">{{cite journal |vauthors=Brown BI, Brown DH |title=Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease |journal=Am. J. Hum. Genet. |volume=44 |issue=3 |pages=378–81 |date=March 1989 |pmid=2521770 |pmc=1715438 |doi= |url=}}</ref>
+* After genetic confirmation of the affected cases, future pregnancies can be monitored by determining branching enzyme activity and [[DNA]] analysis of [[chorionic villi]] or cultured [[Amniocyte|amniocytes]].<ref name="pmid16874838">{{cite journal |vauthors=Akman HO, Karadimas C, Gyftodimou Y, Grigoriadou M, Kokotas H, Konstantinidou A, Anninos H, Patsouris E, Thaker HM, Kaplan JB, Besharat I, Hatzikonstantinou K, Fotopoulos S, Dimauro S, Petersen MB |title=Prenatal diagnosis of glycogen storage disease type IV |journal=Prenat. Diagn. |volume=26 |issue=10 |pages=951–5 |date=October 2006 |pmid=16874838 |doi=10.1002/pd.1533 |url=}}</ref><ref name="pmid2521770">{{cite journal |vauthors=Brown BI, Brown DH |title=Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease |journal=Am. J. Hum. Genet. |volume=44 |issue=3 |pages=378–81 |date=March 1989 |pmid=2521770 |pmc=1715438 |doi= |url=}}</ref>
-* Histological analysis of placental tissue may also be used in prenatal diagnosis of the disease.<ref name="pmid18289670">{{cite journal |vauthors=Konstantinidou AE, Anninos H, Dertinger S, Nonni A, Petersen M, Karadimas C, Havaki S, Marinos E, Akman HO, DiMauro S, Patsouris E |title=Placental involvement in glycogen storage disease type IV |journal=Placenta |volume=29 |issue=4 |pages=378–81 |date=April 2008 |pmid=18289670 |doi=10.1016/j.placenta.2008.01.005 |url=}}</ref>
+* [[Histology|Histological analysis]] of [[Placenta|placental tissue]] may also be used in prenatal diagnosis of the disease.<ref name="pmid18289670">{{cite journal |vauthors=Konstantinidou AE, Anninos H, Dertinger S, Nonni A, Petersen M, Karadimas C, Havaki S, Marinos E, Akman HO, DiMauro S, Patsouris E |title=Placental involvement in glycogen storage disease type IV |journal=Placenta |volume=29 |issue=4 |pages=378–81 |date=April 2008 |pmid=18289670 |doi=10.1016/j.placenta.2008.01.005 |url=}}</ref>
 ==Natural History, Complications, and Prognosis==
-* GSD IV is a very rare disorder.
+* GSD type IV is a very rare disorder.
-* Liver transplantation has been found to prevent progression of the disease.
+* [[Liver transplantation]] has been found to prevent progression of the disease.
-* Classic hepatic form begins in first year of life, progresses to hepatic failure, and death occurs by 5 years of age.
+* Common complication of GSD type IV include liver failure which presents as [[Ascites|ascities]], [[portal hypertension]], and [[coagulopathy]].
+* Classic hepatic form begins in first year of life, progresses to [[hepatic failure]], and death occurs by 5 years of age.
 * Most children with this condition die before two years of age, in rare cases progression to liver dysfunction does not occur.
@@ Line 129: / Line 426: @@
 ===Diagnostic Study of Choice===
-* The diagnosis is confirmed by demonstration of glycogen branching enzyme (GBE) deficiency in liver, muscle, or skin fibroblasts [PMID: 6220706], and/or
+The diagnosis of GSD type IV is confirmed by using either or both of the following:
+* Demonstration of [[glycogen branching enzyme]] (GBE) deficiency in liver, muscle, or skin [[Fibroblast|fibroblasts]].<ref name="pmid6220706">{{cite journal |vauthors=Brown DH, Brown BI |title=Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease |journal=Biochem. Biophys. Res. Commun. |volume=111 |issue=2 |pages=636–43 |date=March 1983 |pmid=6220706 |doi= |url=}}</ref>
+*  Molecular genetic testing of GBE1 gene for mutations.
-*  Molecular genetic testing of GBE1 gene for mutations <nowiki>https://www.ncbi.nlm.nih.gov/books/NBK115333/</nowiki>
+====Liver biopsy====
+* Liver [[biopsy]] shows accumulation of abnormal glycogen in [[Hepatocyte|hepatocytes]]. The deposits stain strongly positive with [[periodic acid-Schiff]] (PAS), appear brown with [[iodine]], and are only partially digested by [[diastase]].<ref name="pmid1067751">{{cite journal |vauthors=Bannayan GA, Dean WJ, Howell RR |title=Type IV glycogen-storage disease. Light-microscopic, electron-microscopic, and enzymatic study |journal=Am. J. Clin. Pathol. |volume=66 |issue=4 |pages=702–9 |date=October 1976 |pmid=1067751 |doi= |url=}}</ref>
+* The deposits appear precipitated and are centrally placed in the [[Hepatocyte|hepatocytes]], while nuclei are eccentric in position.<ref name="pmid1067751" />
 ===History and Symptoms===
-·      Classically, the patient presents in their first year of life with complaints of failure to thrive and hepatosplenomegaly.[17]
+* Classically, the patients present in their first year of life with history of [[failure to thrive]] and [[hepatosplenomegaly]].<ref name="pmid86135472">{{cite journal |vauthors=Bao Y, Kishnani P, Wu JY, Chen YT |title=Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene |journal=J. Clin. Invest. |volume=97 |issue=4 |pages=941–8 |date=February 1996 |pmid=8613547 |pmc=507139 |doi=10.1172/JCI118517 |url=}}</ref>
+* As the disease progress towards [[cirrhosis]], features of hepatic failure become evident.
-·       As the disease progress towards cirrhosis, features of hepatic failure become evident.
+* Rarely in some children, [[hepatomegaly]] is the only presentation and disease does not progress to liver failure.<ref name="pmid8830177">{{cite journal |vauthors=McConkie-Rosell A, Wilson C, Piccoli DA, Boyle J, DeClue T, Kishnani P, Shen JJ, Boney A, Brown B, Chen YT |title=Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease |journal=J. Inherit. Metab. Dis. |volume=19 |issue=1 |pages=51–8 |date=1996 |pmid=8830177 |doi= |url=}}</ref><ref name="pmid3162725">{{cite journal |vauthors=Greene HL, Brown BI, McClenathan DT, Agostini RM, Taylor SR |title=A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease |journal=Hepatology |volume=8 |issue=2 |pages=302–6 |date=1988 |pmid=3162725 |doi= |url=}}</ref>
+* In [[Perinatal period|perinatal]] variant, affected newborns may have a prenatal history of [[polyhydramnios]], reduced utero fetal movements, and [[Hydrops fetalis|fetal hydrops]]. At birth, lack of active movements, sucking, and swallowing is noted.<ref name="pmid15669676">{{cite journal |vauthors=Giuffrè B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffrè M, Corsello G, Mosca F |title=Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings |journal=J. Inherit. Metab. Dis. |volume=27 |issue=5 |pages=609–19 |date=2004 |pmid=15669676 |doi= |url=}}</ref>
-·       Rarely in some children, hepatomegaly is the only presentation and disease does not progress to liver failure. PubMed: 8830177 [PubMed: 3162725]
+* Individuals with late childhood form usually present in the second decade of life with complaints of exercise intolerance and [[exertional dyspnea]] secondary to muscle involvement and [[cardiomyopathy]] respectively.<ref name="pmid17552001">{{cite journal |vauthors=Ozen H |title=Glycogen storage diseases: new perspectives |journal=World J. Gastroenterol. |volume=13 |issue=18 |pages=2541–53 |date=May 2007 |pmid=17552001 |pmc=4146814 |doi= |url=}}</ref>
-·      In perinatal variant, affected newborns may have a prenatal history of polyhydramnios, reduced utero fetal movements and fetal hydrops. At birth, lack of active movements, sucking, and swallowing is noted. <nowiki>PMID 15669676</nowiki>
-·      Individuals with late childhood form usually present in the second decade of life with complaints of exercise intolerance and exertional dyspnea secondary to muscle involvement and cardiomyopathy respectively.[20] [21]
 ===Physical Examination===
 Findings on physical examination of patients with glycogen storage disease type IV vary with respect to the disease variant and organ system involved.
+* In infants with the classic (hepatic) form of GSD type IV, findings depicting liver involvement predominate:<ref name="pmid86135473">{{cite journal |vauthors=Bao Y, Kishnani P, Wu JY, Chen YT |title=Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene |journal=J. Clin. Invest. |volume=97 |issue=4 |pages=941–8 |date=February 1996 |pmid=8613547 |pmc=507139 |doi=10.1172/JCI118517 |url=}}</ref>
+** [[Abdominal distension]]
+** [[Hepatosplenomegaly]]
+** Signs and symptoms of [[portal hypertension]]
-In infants with the classic (hepatic) form of GSD type IV, findings depicting liver involvement predominate:
+* Newborns with perinatal form of disease may show:
+** Poor respiratory effort at birth<ref name="pmid150197032">{{cite journal |vauthors=Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S |title=Fatal infantile neuromuscular presentation of glycogen storage disease type IV |journal=Neuromuscul. Disord. |volume=14 |issue=4 |pages=253–60 |date=April 2004 |pmid=15019703 |doi=10.1016/j.nmd.2003.12.006 |url=}}</ref>
-·       Abdominal protuberance
+** [[Hyporeflexia]]<ref name="pmid150197032" />
+** Severely decreased muscle tone <ref name="pmid4502299">{{cite journal |vauthors=Zellweger H, Mueller S, Ionasescu V, Schochet SS, McCormick WF |title=Glycogenosis. IV. A new cause of infantile hypotonia |journal=J. Pediatr. |volume=80 |issue=5 |pages=842–4 |date=May 1972 |pmid=4502299 |doi= |url=}}</ref>
-·       Hepatosplenomegaly [17]
-·       Signs and symptoms of portal hypertension [17]
-Newborns with perinatal form of disease may show:
-·       Poor respiratory effort at birth [7]
-·       Hyporeflexia [PubMed: 15452297]
-·       Severely decreased muscle tone [PubMed: 4502299] [PubMed: 8059607]
-Patients with ‘late childhood form’ of disease may have:
-·      dysmorphic features [PubMed: 7683169]
+* Patients with late childhood form of disease may have:
+** Dysmorphic features <ref name="pmid7683169">{{cite journal |vauthors=Schröder JM, May R, Shin YS, Sigmund M, Nase-Hüppmeier S |title=Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis) |journal=Acta Neuropathol. |volume=85 |issue=4 |pages=419–30 |date=1993 |pmid=7683169 |doi= |url=}}</ref>
-·      myopathic faces, hypotonia, and waddling gait with hyperlordosis [PubMed: 15452297]
+** [[Myopathic]] faces, [[hypotonia]], and waddling gait with hyperlordosis <ref name="pmid15452297">{{cite journal |vauthors=Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C |title=Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) |journal=Neurology |volume=63 |issue=6 |pages=1053–8 |date=September 2004 |pmid=15452297 |doi= |url=}}</ref>
 ===Laboratory Findings===
-* '''Liver functions tests''':
+* '''Liver functions tests:'''<ref name=":0">Magoulas PL, El-Hattab AW. Glycogen Storage Disease Type IV. 2013 Jan 3. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK115333/</ref>
-** ALT and AST are typically elevated in the hepatic subtype of disease.https://www.ncbi.nlm.nih.gov/books/NBK115333/#gsd4.Diagnosis
+** [[ALT]] and [[AST]] are typically elevated in the hepatic subtype of disease.
-** Decreased albumin levels, prolonged partial thromboplastin time (PTT) and prothrombin time (PT) point to progressive liver dysfunction. https://www.ncbi.nlm.nih.gov/books/NBK115333/#gsd4.Diagnosis
+** Progression towards liver dysfunction is suspected if:
+*** Decreased albumin levels
+*** Prolonged partial thromboplastin time (PTT) and prothrombin time (PT)
 * '''GBE activity'''
-** Decreased activity of glycogen branching enzyme is found in the liver, leukocytes, erythrocytes and fibroblasts [PMID:11949934] PMID:2972882
+** Decreased activity of [[glycogen branching enzyme]] is found in the liver, [[White blood cells|leukocytes]], [[Red blood cell|erythrocytes]] and [[Fibroblast|fibroblasts]]. <ref name="pmid11949934">{{cite journal |vauthors=Moses SW, Parvari R |title=The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies |journal=Curr. Mol. Med. |volume=2 |issue=2 |pages=177–88 |date=March 2002 |pmid=11949934 |doi= |url=}}</ref> <ref name="pmid2972882">{{cite journal |vauthors=Shin YS, Steigüber H, Klemm P, Endres W, Schwab O, Wolff G |title=Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes |journal=J. Inherit. Metab. Dis. |volume=11 Suppl 2 |issue= |pages=252–4 |date=1988 |pmid=2972882 |doi= |url=}}</ref>
-* '''Creatinine Kinase levels''':
-** CK levels are usually elevated, demonstrating muscle pathology, in the neuromuscular forms of the disease.
-* '''Liver biopsy'''
+* '''Creatinine kinase (CK) levels''':
-** Liver biopsy shows accumulation of abnormal glycogen in hepatocytes. The deposits stain strongly positive with periodic acid-Schiff (PAS), appear brown with iodine, and are only partially digested by diastase. PMID:1067751
+** [[Creatine kinase|CK]] levels are usually elevated, demonstrating muscle pathology, in the neuromuscular forms of the disease.
-** The deposits appear precipitated and are centrally placed in the hepatocytes, while nuclei are eccentric in position. PMID:1067751
-** . PMID:1067751
 * '''Chitotriosidase levels''':
-** Plasma chitotriosidase levels are noted to be elevated in GSD Type IV.  PMID: 15669690
+** Plasma chitotriosidase levels are elevated in GSD type IV. <ref name="pmid15669690">{{cite journal |vauthors=Michelakakis H, Dimitriou E, Labadaridis I |title=The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update |journal=J. Inherit. Metab. Dis. |volume=27 |issue=5 |pages=705–6 |date=2004 |pmid=15669690 |doi= |url=}}</ref>
 ===X-ray===
-* Chest radiography is usually not vital in establishing diagnosis.
+* There are no X-ray findings associated with GSD type IV. However, chest x-ray may be helpful in diagnosing complication of GSD type IV due to cardic involvement.
-* In patients with heart involvement, pleural effusions and cardiomegaly may be observed. PMID:3474393
+* Chest x-ray findings due to [[cardiac]] involvement in GSD type IV include:<ref name="pmid3474393">{{cite journal |vauthors=Servidei S, Riepe RE, Langston C, Tani LY, Bricker JT, Crisp-Lindgren N, Travers H, Armstrong D, DiMauro S |title=Severe cardiopathy in branching enzyme deficiency |journal=J. Pediatr. |volume=111 |issue=1 |pages=51–6 |date=July 1987 |pmid=3474393 |doi= |url=}}</ref>
+** [[Pleural effusion|Pleural effusions]]
+** [[Cardiomegaly]]
 === Electrocardiogram ===
-* Although there are no specific EKG findings associated with the disease, after the initial diagnosis, a baseline electrocardiogram is suggested to access for cardiomyopathy. GeneReview
+* There are no electrocardiogram finding associated with GSD type IV. However, after the initial diagnosis, a baseline electrocardiogram is suggested to monitor for [[cardiomyopathy]].<ref name=":0" />
 ===Echocardiography===
-* In patients with symptoms of heart failure, echocardiography may show evidence of cardiomyopathy. PMID:20833045
+* There are no echocardiography finding associated with GSD type IV.  However, echocardiography may be helpful in diagnosing complication of GSD type IV due to [[heart failure]].
+* Echocardiography findings due to heart failure in GSD type IV include:<ref name="pmid20833045">{{cite journal |vauthors=Taratuto AL, Akman HO, Saccoliti M, Riudavets M, Arakaki N, Mesa L, Sevlever G, Goebel H, DiMauro S |title=Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies |journal=Neuromuscul. Disord. |volume=20 |issue=12 |pages=783–90 |date=December 2010 |pmid=20833045 |doi=10.1016/j.nmd.2010.07.275 |url=}}</ref>
+** [[Cardiomyopathy]]
 ===Ultrasonography===
 * Abdominal ultrasound examination is done in the initial workup of the disease.
-* It may show hepatosplenomegaly and coarse echo pattern of the liver.
+* It may show [[hepatosplenomegaly]] and coarse echo pattern of the liver.
 ===CT scan===
-* CT scan is usually not required.
+* CT scan is usually not indicated in GSD type IV.
-* If done to investigate complications of the disease, cirrhotic changes in liver parenchyma may be observed.
+* However, CT scan may be helpful in diagnosis of complications of the GSD type IV. Cirrhotic changes in liver [[parenchyma]] may be observed in CT scan.
 ===MRI===
-* Magnetic resonance imaging is routinely not required for the diagnostic purposes.
+* [[Magnetic resonance imaging]] is routinely not indicated for the diagnostic purposes.
-* When done in patients with CNS involvement and adult polyglucosan body disease (APBD), MRI of the head may reveal leukoencephalopathy and cortical atrophy. MRI typically demonstrates:
+* However, MRI may be helpful in diagnosis of [[CNS]] involvement and adult polyglucosan body disease (APBD).
-** medullary and spinal atrophy,
+* MRI of the head may reveal [[leukoencephalopathy]] and cortical atrophy. MRI typically demonstrates: <ref name="pmid230349153">{{cite journal |vauthors=Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A |title=Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings |journal=Ann. Neurol. |volume=72 |issue=3 |pages=433–41 |date=September 2012 |pmid=23034915 |pmc=4329926 |doi=10.1002/ana.23598 |url=}}</ref>
-** mild thinning of corpus callosum
+** Medullary and spinal [[atrophy]]
-** symmetric periventricular white matter changes with occipital predominance. (ISSN: 1531-8249)MedSke
+** Mild thinning of [[corpus callosum]]
+** Symmetric periventricular [[white matter]] changes with [[occipital]] predominance
 ==Treatment==
 ===Medical Therapy===
 * There is no specific treatment available for the disease.
-* The mainstay is to provide symptomatic and supportive care through coordinated efforts of a multidisciplinary team consisting of healthcare professionals.
+* The mainstay of therapy is to provide symptomatic and supportive care through coordinated efforts of a multidisciplinary team consisting of healthcare professionals.
-* Symptomatic care involves treating manifestations of hepatic dysfunction i.e. ascites, portal hypertension, variceal bleeds, and coagulopathy.
+* Symptomatic care involves treating manifestations of [[Hepatic failure|hepatic dysfunction]] i.e. [[ascites]], [[portal hypertension]], [[Variceal bleeding|variceal]] bleeds, and [[coagulopathy]].
-* Once hepatic failure sets in, liver transplantation is the only treatment option. PMID :10603098
+* Once [[hepatic failure]] sets in, [[liver transplantation]] is the only treatment option available.<ref name="pmid106030982">{{cite journal |vauthors=Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT |title=Liver transplantation for glycogen storage disease types I, III, and IV |journal=Eur. J. Pediatr. |volume=158 Suppl 2 |issue= |pages=S43–8 |date=December 1999 |pmid=10603098 |pmc=3006437 |doi= |url=}}</ref>
 ===Liver transplant surgery===
-* Liver transplantation is the most effective treatment for patients with classic GSD type IV. <ref name="pmid10603098">{{cite journal |vauthors=Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT |title=Liver transplantation for glycogen storage disease types I, III, and IV |journal=Eur. J. Pediatr. |volume=158 Suppl 2 |issue= |pages=S43–8 |date=December 1999 |pmid=10603098 |pmc=3006437 |doi= |url=}}</ref>
+* [[Liver transplantation]] is the most effective treatment for patients with classic GSD type IV.<ref name="pmid10603098">{{cite journal |vauthors=Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT |title=Liver transplantation for glycogen storage disease types I, III, and IV |journal=Eur. J. Pediatr. |volume=158 Suppl 2 |issue= |pages=S43–8 |date=December 1999 |pmid=10603098 |pmc=3006437 |doi= |url=}}</ref>
-* Living donor liver transplant is also a viable option to restore normal metabolic balance in patients with GSD when medical treatment fails. Long-term follow-up after LT for GSD shows excellent graft and patient survival.
+* Like other transplant surgeries, risks include [[Post-operative complications|immediate postoperative complications]] and [[organ rejection]].
-* Like other transplant surgeries, post-op complications include immediate postoperative complications and organ rejection.
+* [[Living donor liver transplantation|Living donor liver transplant]] is also a viable option. Long-term follow-up after LT for GSD shows excellent [[graft]] and patient survival.<ref name="pmid175390042">{{cite journal |vauthors=Iyer SG, Chen CL, Wang CC, Wang SH, Concejero AM, Liu YW, Yang CH, Yong CC, Jawan B, Cheng YF, Eng HL |title=Long-term results of living donor liver transplantation for glycogen storage disorders in children |journal=Liver Transpl. |volume=13 |issue=6 |pages=848–52 |date=June 2007 |pmid=17539004 |doi=10.1002/lt.21151 |url=}}</ref>
-* As GSD type IV is a multisystem disorder, the long-term success of liver transplantation and its effect on the disease progression in other organs is unclear.
+* As GSD type IV is a multi-system disorder, the long-term success of liver transplantation and its effect on the disease progression in other organs is unclear.
-* Several patients have reportedly experienced decreased progression after transplant surgery, while few patients developed accumulation of abnormal glycogen in other organs e.g. heart. <ref name="pmid1601012">{{cite journal |vauthors=Sokal EM, Van Hoof F, Alberti D, de Ville de Goyet J, de Barsy T, Otte JB |title=Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis |journal=Eur. J. Pediatr. |volume=151 |issue=3 |pages=200–3 |date=March 1992 |pmid=1601012 |doi= |url=}}</ref> <ref name="pmid9346615">{{cite journal |vauthors=Rosenthal P, Podesta L, Grier R, Said JW, Sher L, Cocjin J, Watanabe F, Vasiliauskas E, van de Velde R, Makowka L |title=Failure of liver transplantation to diminish cardiac deposits of amylopectin and leukocyte inclusions in type IV glycogen storage disease |journal=Liver Transpl Surg |volume=1 |issue=6 |pages=373–6 |date=November 1995 |pmid=9346615 |doi= |url=}}</ref>
+* Several patients have reportedly experienced decreased progression after transplant surgery, while few patients developed accumulation of abnormal [[glycogen]] in other organs e.g. heart.<ref name="pmid1601012">{{cite journal |vauthors=Sokal EM, Van Hoof F, Alberti D, de Ville de Goyet J, de Barsy T, Otte JB |title=Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis |journal=Eur. J. Pediatr. |volume=151 |issue=3 |pages=200–3 |date=March 1992 |pmid=1601012 |doi= |url=}}</ref><ref name="pmid9346615">{{cite journal |vauthors=Rosenthal P, Podesta L, Grier R, Said JW, Sher L, Cocjin J, Watanabe F, Vasiliauskas E, van de Velde R, Makowka L |title=Failure of liver transplantation to diminish cardiac deposits of amylopectin and leukocyte inclusions in type IV glycogen storage disease |journal=Liver Transpl Surg |volume=1 |issue=6 |pages=373–6 |date=November 1995 |pmid=9346615 |doi= |url=}}</ref>
-*
 ==References==
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