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Latest revision as of 14:23, 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: Feham Tariq, MD [2], Anmol Pitliya, M.B.B.S. M.D.[3]

Synonyms and keywords:Tarui's disease; glycogen storage disease type 7; GSD type VII; phosphofructokinase deficiency; muscle phosphofructokinase deficiency

Overview

Glycogen storage disease type VII (Tarui's disease) is a rare autosomal recessive disease, clinically characterized by early exercise intolerance which manifests during childhood, with muscle pain and myoglobinuria after exercise or strenuous exercise. In 1965, Tarui first described the phosphofructokinase (PFK) deficiency in 3 siblings with easy fatigability and exercise intolerance. GSD type VII is caused by mutation of phosphofructokinase gene located at 12q13 for the M (muscle isoform) that results in a deficiency of the phosphofructokinase enzyme which converts fructose-6-phosphate to fructose-1,6-diphosphate.

Historical Perspective

The historical perspective of the glycogen storage disease type VII is as follows:^[1]^[2]^[3]^[4]^[5]^[6]^[7]

In 1965, Tarui first described the phosphofructokinase (PFK) deficiency in 3 siblings with easy fatigability and exercise intolerance.
In 1967, Layer et al suggested autosomal recessive inheritence of the disease by detecting the disease in a 18 year old male.
Also in 1967, Satoyoshi and Kowa postulated the role of a inhibitor in the development of disease.
In 1980, Vora et al studied a patient with myopathy and hemolysis which were assosciated with PFK deficiency.
In 1983 Tani et al studied two Japanese with congenital non-spherocytic hemolytic anemia and mild myopathy, having erythrocyte PFK deficiency.

Classification

There is no established classification of glycogen storage disease type VII.

Pathophysiology

Pathogenesis

Mutations in the phosphofructokinase (PFKM) gene cause glycogen storage disease type VII.^[8]

PFKM gene signals to make the PFKM subunit of an enzyme called phosphofructokinase, which plays a key role in the metabolism of the glycogen.
The phosphofructokinase enzyme is made up of four subunits and is found in a variety of tissues.
Various tissues have different combinations of these four subunits of phosphofructokinase enzyme.
In skeletal muscles where the main source of energy is stored glycogen, the phosphofructokinase enzyme is solely composed of the PFKM subunits.
To maintain normal blood sugar levels between meals or during exercise, glycogen is metabolized rapidly into the when energy is needed.
Phosphofructokinase is involved in the above-mentioned chain of events that metabolizes glycogen to provide energy to muscle cells.
The mutations of the PFKM gene results in non-functional or dysfunctional PFKM subunits.
As a result, no functional phosphofructokinase is formed in skeletal muscles, and glycogen cannot be metabolized completely resulting in the accumulation of the partially metabolized glycogen in the skeletal muscle cells.
If these skeletal muscles are put to a moderate strain such as exercise, cramping ensues as these muscles do not have access to glycogen as an energy source.
In other tissues, other subunits that make up the phosphofructokinase enzyme likely compensate for the lack of PFKM subunits, and the enzyme is able to retain some function, this compensation may help explain why other tissues are not affected by PFKM gene mutations.

Metabolic Pathway

Genetics

Glycogen storage disease type VII is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.^[9]^[10]^[11]
Disease manifests when there is a mutation in the gene for M (muscle isoform), L (liver isoform) and P (platelet isoform) of phosphofructokinase enzyme.^[12]^[13]^[14]^[15]^[16]
A variety of mutations can occur, one of which is alteration of splice site leading to exon skipping and single nucleotide mutation leading to 95% of causes of glycogen storage disease type VII.^[17]^[18]^[19]^[14]

Microscopic findings

The following changes are seen in the muscle on muscle biopsy:^[20]^[3]^[21]

Muscle fiber necrosis
Increased variation in the fibre size
Ring fibers
Endomyosial fibrosis
Moderate excess of subsarcolemmal glycogen accumulation on periodic acid-Schiff (PAS) staining
In 10% of muscle fibers, diastase-resistant, long filamentous inclusions are seen
Iodine absorption spectra of both the inclusions and a diastase-resistant fraction of isolated glycogen resembled amylopectin
The abnormal polysaccharide in PFK deficiency may be related to greatly elevated concentration of muscle glucose-6-phosphate, an activator of the chain-elongating enzyme glycogen synthase

Causes

Glycogen storage disease type VII is inherited as an autosomal recessive genetic disorder.
GSD type VII is caused by mutation of phosphofructokinase gene located at 12q13 for the M (muscle isoform) that results in a deficiency of the phosphofructokinase enzyme which converts fructose-6-phosphate to fructose-1,6-diphosphate.^[22]
This is the rate-limiting step in the metabolism of the glucose into available energy, if the phosphofructokinase is deficient, energy is not available to muscles during heavy exercise and hence pain and cramps occur in the muscle.

Differentiating Glycogen Storage Disease Type VII from Other Diseases

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^[23]^[24]^[25]^[26]^[27]^[28]	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^[29]^[30]^[31]^[32]^[33]^[34]^[35]^[36]^[37]	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^[38]^[39]^[40]^[41]^[42]^[43]	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^[44]^[45]^[46]^[47]^[48]	Andersen's disease		Branching enzyme	GBE1 gene mutation	Autosomal recessive	3p12	+/-	+	+	+	+	+	-
Glycogen storage disease type V^[49]^[50]^[51]^[52]^[53]^[54]^[55]	McArdle disease		Muscle glycogen phosphorylase	PYGM gene mutation	Autosomal recessive	11q13	-	+	-	-	+	-	Myoglobinuria, may result in renal failure
Glycogen storage disease type VI^[56]^[57]^[58]^[59]^[60]	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^[14]^[1]^[61]^[5]^[62]^[6]	Tarui's disease		Muscle phosphofructokinase	PFKM gene mutation	Autosomal recessive	12q13	+	+	-	-	+	+	Reticulocytosis Hyperuricemia Myoglobinuria Hemolytic anemia
Glycogen storage disease type IX^[63]^[57]^[64]		GSD type IXa^[65]^[66]^[67]^[68]^[69]	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^[63]^[57]^[64]		GSD type IXb^[70]^[71]^[72]	Phosphorylase b kinase (deficiency in liver and muscle)	PHKB gene mutation	Autosomal recessive	16q12	+	-	-	+	-	-	Hyperlipidemia Elevated liver aminotransferases
Glycogen storage disease type X^[73]^[74]^[75]^[76]			Phosphoglycerate mutase	PGAM2 gene mutation	Autosomal recessive	7p13	-	-	-	-	+	-	Myoglobinuria Gout (tophy) Severe coronary arteriosclerosis
Glycogen storage disease type XI^[77]^[78]^[79]^[80]	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^[81]^[82]^[83]^[84]	Aldolase A deficiency		Aldolase A	ALDOA gene mutation	Autosomal recessive	16p11	-	+	-	+	-	-	Hemolytic anemia Splenomegaly
Glycogen storage disease type XIII^[85]			Beta-enolase	ENO3 gene mutation	Autosomal recessive	17p13	-	+	-	-	+	-	-
Glycogen storage disease type XIV^[86]^[87]			Phosphoglucomutase type 2	PGM1 gene mutation	Autosomal recessive	1p31	+/-	+	-	-	+	-	Elevated liver aminotransferases
Glycogen storage disease type 0^[88]^[89]^[90]^[91]	Lewis' disease		Hepatic glycogen synthase	GYS2 gene mutation (liver)	Autosomal recessive	12p12	+	-	-	-	-	-	Fasting hypoglycemia and ketosis Postprandial hyperglycemia and lactic acidosis

Epidemiology and Demographics

The epidemiology and demographics of the Glycogen storage disease type VII are as follows:^[92]^[15]^[93]

Glycogen storage disease type VII is considered a rare condition; however, more than 100 cases have been found in the literature.
The incidence of glycogen storage disease type VII is 2.3 children per 100,000 births per year.
Glycogen storage disease type VII commonly affects children, all patients of reported cases died by age 4 years.
Glycogen storage disease type VII usually affects individuals of the Japanese and Ashkenazi Jewish descent.
Some disease-causing mutations have been found in the PFK-M gene in Italian, French Canadian, and Swiss patients.
Glycogen storage disease type VII affects men and women equally.

Risk Factors

The most potent risk factor in the development of glycogen storage disease type VII is a sibling with glycogen storage disease type VII.

Screening

There is insufficient evidence to recommend routine screening for Tarui's disease.
The proband's PFK mutations should be determined for diagnosis and direct further testing for family members.

Natural History, Complications, and Prognosis

Complications:

Common complications of glycogen storage disease type VII disease include:^[94]^[95]

Diagnosis

Diagnostic study of choice

Biochemical enzyme activity^[96]^[97]^[17]
Molecular genetics

History and Symptoms

The hallmark of glycogen storage disease type VII is muscle exercise intolerance.^[98]

The specific areas of focus when obtaining patient history include:

Muscle weakness following a high carbohydrate meal
Muscle exercise intolerance
Slowly progressive limb weakness with or without myoglobinuria or cramps

Most common symptoms

The most common symptoms of glycogen storage disease type VII include:^[1]^[61]^[99]^[14]

Less common symptoms

Cortical blindness

Erythrocyte hemolysis

Physical Examination

Physical examination of patients with glycogen storage disease type VII is usually remarkable for:^[100]^[101]^[102]

Neuromuscular

Muscle atrophy
Arthrogryposis(congenital joint contracture)

Cardiovascular

Hypertrophic cardiomyopathy
Paroxysmal atrial fibrillation

Ophthalmology

Corneal opacity

Laboratory Findings

The following laboratory findings are seen in glycogen storage disease type VII:^[103]^[104]^[105]^[106]

More common findings

Elevated serum creatine kinase
Reduced red blood cell phosphofructokinase activity.
Reticulocytosis
Hyperuricemia
Myoglobinuria

Less common findings

Hemolytic anemia
Mild hyperbilirubinemia

Laboratory findings seen after exercise

High concentrations of:

Electrocardiogram

There are no ECG findings associated with glycogen storage disease type VII.

X-ray

There are no x-ray findings associated with glycogen storage disease type VII.

Ultrasound

Ultrasound abdomen may be helpful in the diagnosis of hepatomegaly.

CT scan

There are no CT scan findings associated with glycogen storage disease type VII.

MRI

There are no MRI findings associated with glycogen storage disease type VII.

Other Imaging Findings

There are no other imaging findings associated with glycogen storage disease type VII.

Other Diagnostic Studies

Muscle enzyme assay and DNA testing are helpful in the diagnosis of glycogen storage disease type VII.

Treatment

Medical Therapy

There is no medical treatment for glycogen storage disease type VII.
The mainstay of therapy is supportive care.

Surgery

Surgical intervention is not recommended for the management of glycogen storage disease type VII.

Primary Prevention

Genetic counseling: Genetic counseling should be offered to all parents with a child with glycogen storage disease type VII and to all adults with glycogen storage disease type VII.
Prenatal diagnosis: The preferred method for prenatal diagnosis is molecular testing when PFK mutation is known. Mutation analysis is performed either on cultured chorionic villus samples or amniocytes.
Screening: The proband's PFK mutations should be determined for diagnosis and direct further testing for family members.

Secondary Prevention

Effective measures for the secondary prevention of glycogen storage disease type VII include:^[107]^[108]

Avoidance of strenuous exercise
High carbohydrate meal: Consumption of high carbohydrate meal should be avoided before exercise.
Ketogenic diet

References

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@@ Line 1: / Line 1: @@
 __NOTOC__
-{{Infobox_Disease |
-  Name           = {{PAGENAME}} |
+'''For the main page on glycogen storage disease, please click [[Glycogen storage disease|here]]'''<br>
-  Image          = |
-  Caption        = |
-  DiseasesDB     = 5314 |
-  ICD10          = {{ICD10|E|74|0|e|70}} |
-  ICD9           = {{ICD9|271.0}} |
-  ICDO           = |
-  OMIM           = 232800 |
-  MedlinePlus    = |
-  MeshID         = D006014 |
-}}
 {{SI}}
-{{CMG}}; {{AE}} {{FT}}
+{{CMG}}; {{AE}} {{FT}}, {{Anmol}}
-{{SK}}
+{{SK}}Tarui's disease; glycogen storage disease type 7; GSD type VII; phosphofructokinase deficiency; muscle phosphofructokinase deficiency
 ==Overview==
-Tarui disease([[Glycogen storage disease|Glycogen]] storage disease typeVII) is a rare [[Autosome|autosomal]] recessive disease, clinically characterized by early [[Physical exercise|exercise]] intolerance which manifests during childhood, with muscle pain and [[myoglobinuria]] after exercise or sternous exercise.
+[[Glycogen storage disease|Glycogen]] storage disease type VII (Tarui's disease) is a rare [[autosomal recessive]] disease, clinically characterized by early [[Physical exercise|exercise]] intolerance which manifests during childhood, with muscle pain and [[myoglobinuria]] after exercise or strenuous exercise. In 1965, Tarui first described the [[phosphofructokinase]] (PFK) deficiency in 3 siblings with easy [[Fatigue|fatigability]] and [[exercise intolerance]]. GSD type VII is caused by [[mutation]] of [[phosphofructokinase]] gene located at 12q13 for the M ([[muscle]] isoform) that results in a deficiency of the [[phosphofructokinase]] enzyme which converts fructose-6-phosphate to fructose-1,6-diphosphate.
 ==Historical Perspective==
-The historical perspective of the glycogen-storage disease type VII is as follows:<ref name="pmid14339001">{{cite journal |vauthors=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. |volume=19 |issue= |pages=517–23 |year=1965 |pmid=14339001 |doi= |url=}}</ref><ref name="pmid18421897">{{cite journal |vauthors=Toscano A, Musumeci O |title=Tarui disease and distal glycogenoses: clinical and genetic update |journal=Acta Myol |volume=26 |issue=2 |pages=105–7 |year=2007 |pmid=18421897 |pmc=2949577 |doi= |url=}}</ref><ref name="pmid10365541">{{cite journal| author=Lin HC, Young C, Wang PJ, Shen YZ| title=Muscle phosphofructokinase deficiency (Tarui's disease): report of a case. | journal=J Formos Med Assoc | year= 1999 | volume= 98 | issue= 3 | pages= 205-8 | pmid=10365541 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10365541  }} </ref><ref name="pmid11949936">{{cite journal| author=Nakajima H, Raben N, Hamaguchi T, Yamasaki T| title=Phosphofructokinase deficiency; past, present and future. | journal=Curr Mol Med | year= 2002 | volume= 2 | issue= 2 | pages= 197-212 | pmid=11949936 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11949936  }} </ref>
+The historical perspective of the glycogen storage disease type VII is as follows:<ref name="pmid14339001">{{cite journal |vauthors=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. |volume=19 |issue= |pages=517–23 |year=1965 |pmid=14339001 |doi= |url=}}</ref><ref name="pmid18421897">{{cite journal |vauthors=Toscano A, Musumeci O |title=Tarui disease and distal glycogenoses: clinical and genetic update |journal=Acta Myol |volume=26 |issue=2 |pages=105–7 |year=2007 |pmid=18421897 |pmc=2949577 |doi= |url=}}</ref><ref name="pmid10365541">{{cite journal| author=Lin HC, Young C, Wang PJ, Shen YZ| title=Muscle phosphofructokinase deficiency (Tarui's disease): report of a case. | journal=J Formos Med Assoc | year= 1999 | volume= 98 | issue= 3 | pages= 205-8 | pmid=10365541 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10365541  }} </ref><ref name="pmid11949936">{{cite journal| author=Nakajima H, Raben N, Hamaguchi T, Yamasaki T| title=Phosphofructokinase deficiency; past, present and future. | journal=Curr Mol Med | year= 2002 | volume= 2 | issue= 2 | pages= 197-212 | pmid=11949936 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11949936  }} </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="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><ref name="pmid6220601">{{cite journal| author=Tani K, Fujii H, Takegawa S, Miwa S, Koyama W, Kanayama M et al.| title=Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan. | journal=Am J Hematol | year= 1983 | volume= 14 | issue= 2 | pages= 165-74 | pmid=6220601 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6220601  }} </ref>
 *In 1965, Tarui first described the [[phosphofructokinase]] (PFK) deficiency in 3 siblings with easy [[Fatigue|fatigability]] and [[exercise intolerance]].
-*The skeletal muscles of these patients had increased muscle glycogen content and high levels of hexose monophosphates.
 *In 1967, Layer et al suggested [[autosomal recessive]] inheritence of the disease by detecting the disease in a 18 year old male.
-*Also in 1967, Satoyoshi and Kowa postulated the role of a inhibitor in the development of disease.<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>
+*Also in 1967, Satoyoshi and Kowa postulated the role of a inhibitor in the development of disease.
-*In 1980, Vora et al. studied a patient with myopathy and hemolysis which were assosciated with PFK deficiency.<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>
+*In 1980, Vora et al studied a patient with [[myopathy]] and [[hemolysis]] which were assosciated with PFK deficiency.
-*In 1983 Tani et al. studied two japenese with congenital nonspheroctyic hemolytic anemia and mild myopathy, having erthrocytic PFK deficiency.<ref name="pmid6220601">{{cite journal| author=Tani K, Fujii H, Takegawa S, Miwa S, Koyama W, Kanayama M et al.| title=Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan. | journal=Am J Hematol | year= 1983 | volume= 14 | issue= 2 | pages= 165-74 | pmid=6220601 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6220601  }} </ref>
+*In 1983 Tani et al studied two Japanese with congenital non-spherocytic [[hemolytic anemia]] and mild [[myopathy]], having [[erythrocyte]] PFK deficiency.
-*Assays for muscle [[Phosphofructokinase 2|PFK]] revealed almost undetectable activity, and [[Red blood cell|erythrocyte]] PFK had about 50% normal activity.
-*Tarui disease or glycogen-storage disease type VII has since been described in approximately 100 patients worldwide.
 ==Classification==
-There is no established classification of Tarui disease.
+There is no established [[classification]] of glycogen storage disease type VII.
 ==Pathophysiology==
-*[[Mutation|Mutations]] in the PFKM gene cause [[Glycogen storage disease|glycogen]] storage disease type VII.<ref name="pmid7603524">{{cite journal| author=Nakajima H, Hamaguchi T, Yamasaki T, Tarui S| title=Phosphofructokinase deficiency: recent advances in molecular biology. | journal=Muscle Nerve Suppl | year= 1995 | volume= 3 | issue=  | pages= S28-34 | pmid=7603524 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7603524  }} </ref>
+===Pathogenesis===
+*[[Mutation|Mutations]] in the [[phosphofructokinase]] (PFKM) gene cause [[Glycogen storage disease|glycogen]] storage disease type VII.<ref name="pmid7603524">{{cite journal| author=Nakajima H, Hamaguchi T, Yamasaki T, Tarui S| title=Phosphofructokinase deficiency: recent advances in molecular biology. | journal=Muscle Nerve Suppl | year= 1995 | volume= 3 | issue=  | pages= S28-34 | pmid=7603524 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7603524  }} </ref>
 *PFKM gene signals to make the PFKM subunit of an enzyme called [[phosphofructokinase]], which plays a key role in the [[metabolism]] of the [[glycogen]].
 *The [[phosphofructokinase]] enzyme is made up of four subunits and is found in a variety of [[Tissue (biology)|tissues]].
-*Different tissues have different combinations of these four subunits of [[phosphofructokinase]] enzyme.
+*Various tissues have different combinations of these four subunits of [[phosphofructokinase]] enzyme.
-*In [[Skeleton|skeletal]] muscles where the main source of energy is stored [[glycogen]], the [[phosphofructokinase]] enzyme is solely composed of the PFKM subunits.
+*In [[Skeleton|skeletal]] muscles where the main source of [[energy]] is stored [[glycogen]], the [[phosphofructokinase]] enzyme is solely composed of the [[PFKM]] subunits.
 *To maintain normal blood sugar levels between meals or during exercise, [[glycogen]] is metabolized rapidly into the when energy is needed.
 *[[Phosphofructokinase]] is involved in the above-mentioned chain of events that metabolizes [[glycogen]] to provide [[energy]] to muscle cells.
-*The [[Mutation|mutations]] of the PFKM gene results in non-functional or dysfunctional PFKM subunits.
+*The [[Mutation|mutations]] of the [[PFKM]] gene results in non-functional or dysfunctional [[PFKM]] subunits.
-*As a result, no functional [[phosphofructokinase]] is formed in skeletal muscles, and glycogen cannot be metabolized completely resulting in the accumulation of the partially metabolized [[glycogen]] in the [[Skeleton|skeletal]] muscle cells.
+*As a result, no functional [[phosphofructokinase]] is formed in [[Skeleton|skeletal]] [[Muscle|muscles]], and [[glycogen]] cannot be metabolized completely resulting in the accumulation of the partially metabolized [[glycogen]] in the [[Skeleton|skeletal]] [[muscle cells]].
-*If these skeletal muscles are put to a moderate strain such as [[Physical exercise|exercise]], [[Cramp|cramping]] ensues as these muscles do not have access to [[glycogen]] as an [[energy]] source.
+*If these skeletal [[Muscle|muscles]] are put to a moderate strain such as [[Physical exercise|exercise]], [[Cramp|cramping]] ensues as these muscles do not have access to [[glycogen]] as an [[energy]] source.
-*In other tissues, other subunits that make up the [[phosphofructokinase]] enzyme likely compensate for the lack of PFKM subunits, and the enzyme is able to retain some function, this compensation may help explain why other tissues are not affected by PFKM [[gene]] [[Mutation|mutations]].
+*In other tissues, other subunits that make up the [[phosphofructokinase]] enzyme likely compensate for the lack of [[PFKM]] subunits, and the enzyme is able to retain some function, this compensation may help explain why other tissues are not affected by [[PFKM]] [[gene]] [[Mutation|mutations]].
+===Metabolic Pathway===
+[[File:GSD TYPE VII.png|center|800px|frame| Metabolic pathways showing defects in glycogen storage disease VII, (ɔ) Image courtesy of WikiDoc.org, by '''"[[User:Anmol Pitliya|Dr. Anmol Pitliya]]"''']]
 ===Genetics===
-*[[Glycogen storage disease|Glycogen]] storage disease type VII is inherited in an [[Autosome|autosomal]] recessive pattern, which means both copies of the gene in each cell have mutations.<ref name="pmid8661033">{{cite journal| author=Howard TD, Akots G, Bowden DW| title=Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q. | journal=Genomics | year= 1996 | volume= 34 | issue= 1 | pages= 122-7 | pmid=8661033 | doi=10.1006/geno.1996.0250 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8661033  }} </ref><ref name="HowardAkots1996">{{cite journal|last1=Howard|first1=Timothy D.|last2=Akots|first2=Gita|last3=Bowden|first3=Donald W.|title=Physical and Genetic Mapping of the Muscle Phosphofructokinase Gene (PFKM): Reassignment to Human Chromosome 12q|journal=Genomics|volume=34|issue=1|year=1996|pages=122–127|issn=08887543|doi=10.1006/geno.1996.0250}}</ref><ref name="pmid10081651">{{cite journal| author=Vestergaard H| title=Studies of gene expression and activity of hexokinase, phosphofructokinase and glycogen synthase in human skeletal muscle in states of altered insulin-stimulated glucose metabolism. | journal=Dan Med Bull | year= 1999 | volume= 46 | issue= 1 | pages= 13-34 | pmid=10081651 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10081651  }} </ref><ref name="Inal GultekinRaj2012">{{cite journal|last1=Inal Gultekin|first1=G.|last2=Raj|first2=K.|last3=Lehman|first3=S.|last4=Hillström|first4=A.|last5=Giger|first5=U.|title=Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog|journal=Molecular and Cellular Probes|volume=26|issue=6|year=2012|pages=243–247|issn=08908508|doi=10.1016/j.mcp.2012.02.004}}</ref>
+*Glycogen storage disease type VII is inherited in an [[Autosome|autosomal]] recessive pattern, which means both copies of the gene in each cell have mutations.<ref name="HowardAkots1996">{{cite journal|last1=Howard|first1=Timothy D.|last2=Akots|first2=Gita|last3=Bowden|first3=Donald W.|title=Physical and Genetic Mapping of the Muscle Phosphofructokinase Gene (PFKM): Reassignment to Human Chromosome 12q|journal=Genomics|volume=34|issue=1|year=1996|pages=122–127|issn=08887543|doi=10.1006/geno.1996.0250}}</ref><ref name="pmid10081651">{{cite journal| author=Vestergaard H| title=Studies of gene expression and activity of hexokinase, phosphofructokinase and glycogen synthase in human skeletal muscle in states of altered insulin-stimulated glucose metabolism. | journal=Dan Med Bull | year= 1999 | volume= 46 | issue= 1 | pages= 13-34 | pmid=10081651 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10081651  }} </ref><ref name="Inal GultekinRaj2012">{{cite journal|last1=Inal Gultekin|first1=G.|last2=Raj|first2=K.|last3=Lehman|first3=S.|last4=Hillström|first4=A.|last5=Giger|first5=U.|title=Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog|journal=Molecular and Cellular Probes|volume=26|issue=6|year=2012|pages=243–247|issn=08908508|doi=10.1016/j.mcp.2012.02.004}}</ref>
-*Disease manifests when there is a mutation in the gene for M(muscle isoform), L(liver isoform) and P(platelet isoform) of [[phosphofructokinase]] enzyme.<ref name="pmid2944814">{{cite journal| author=Van Keuren M, Drabkin H, Hart I, Harker D, Patterson D, Vora S| title=Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody. | journal=Hum Genet | year= 1986 | volume= 74 | issue= 1 | pages= 34-40 | pmid=2944814 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2944814  }} </ref><ref name="pmid6222962">{{cite journal| author=Vora S, Miranda AF, Hernandez E, Francke U| title=Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: novel use of polyspecific rodent antisera to localize human enzyme genes. | journal=Hum Genet | year= 1983 | volume= 63 | issue= 4 | pages= 374-9 | pmid=6222962 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6222962  }} </ref><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="pmid8659544">{{cite journal| author=Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N| title=Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions. | journal=Am J Hum Genet | year= 1996 | volume= 59 | issue= 1 | pages= 59-65 | pmid=8659544 | doi= | pmc=1915105 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8659544  }} </ref><ref name="pmid6227585">{{cite journal| author=Vora S| title=Isozymes of human phosphofructokinase: biochemical and genetic aspects. | journal=Isozymes Curr Top Biol Med Res | year= 1983 | volume= 11 | issue=  | pages= 3-23 | pmid=6227585 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6227585  }} </ref>
+*Disease manifests when there is a mutation in the gene for M (muscle isoform), L (liver isoform) and P (platelet isoform) of [[phosphofructokinase]] enzyme.<ref name="pmid2944814">{{cite journal| author=Van Keuren M, Drabkin H, Hart I, Harker D, Patterson D, Vora S| title=Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody. | journal=Hum Genet | year= 1986 | volume= 74 | issue= 1 | pages= 34-40 | pmid=2944814 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2944814  }} </ref><ref name="pmid6222962">{{cite journal| author=Vora S, Miranda AF, Hernandez E, Francke U| title=Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: novel use of polyspecific rodent antisera to localize human enzyme genes. | journal=Hum Genet | year= 1983 | volume= 63 | issue= 4 | pages= 374-9 | pmid=6222962 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6222962  }} </ref><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="pmid8659544">{{cite journal| author=Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N| title=Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions. | journal=Am J Hum Genet | year= 1996 | volume= 59 | issue= 1 | pages= 59-65 | pmid=8659544 | doi= | pmc=1915105 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8659544  }} </ref><ref name="pmid6227585">{{cite journal| author=Vora S| title=Isozymes of human phosphofructokinase: biochemical and genetic aspects. | journal=Isozymes Curr Top Biol Med Res | year= 1983 | volume= 11 | issue=  | pages= 3-23 | pmid=6227585 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6227585  }} </ref>
-*A variety of [[Mutation|mutations]] can occur, one of which is alteration of [[splice]] site leading to [[exon]] skipping and single nucleotide mutation leading to 95% of causes of tarui disease.<ref name="pmid7603525">{{cite journal| author=Raben N, Sherman JB, Adams E, Nakajima H, Argov Z, Plotz P| title=Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease). | journal=Muscle Nerve Suppl | year= 1995 | volume= 3 | issue=  | pages= S35-8 | pmid=7603525 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7603525  }} </ref><ref name="pmid8037209">{{cite journal| author=Sherman JB, Raben N, Nicastri C, Argov Z, Nakajima H, Adams EM et al.| title=Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. | journal=Am J Hum Genet | year= 1994 | volume= 55 | issue= 2 | pages= 305-13 | pmid=8037209 | doi= | pmc=1918380 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8037209  }} </ref><ref name="pmid6306441">{{cite journal| author=Dunaway GA| title=A review of animal phosphofructokinase isozymes with an emphasis on their physiological role. | journal=Mol Cell Biochem | year= 1983 | volume= 52 | issue= 1 | pages= 75-91 | pmid=6306441 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6306441  }} </ref><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>
+*A variety of [[Mutation|mutations]] can occur, one of which is alteration of [[splice]] site leading to [[exon]] skipping and single [[nucleotide]] [[mutation]] leading to 95% of causes of glycogen storage disease type VII.<ref name="pmid7603525">{{cite journal| author=Raben N, Sherman JB, Adams E, Nakajima H, Argov Z, Plotz P| title=Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease). | journal=Muscle Nerve Suppl | year= 1995 | volume= 3 | issue=  | pages= S35-8 | pmid=7603525 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7603525  }} </ref><ref name="pmid8037209">{{cite journal| author=Sherman JB, Raben N, Nicastri C, Argov Z, Nakajima H, Adams EM et al.| title=Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. | journal=Am J Hum Genet | year= 1994 | volume= 55 | issue= 2 | pages= 305-13 | pmid=8037209 | doi= | pmc=1918380 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8037209  }} </ref><ref name="pmid6306441">{{cite journal| author=Dunaway GA| title=A review of animal phosphofructokinase isozymes with an emphasis on their physiological role. | journal=Mol Cell Biochem | year= 1983 | volume= 52 | issue= 1 | pages= 75-91 | pmid=6306441 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6306441  }} </ref><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>
-*Recessive [[Genetics|genetic]] disorders occur when an individual inherits the same abnormal gene for the same trait from each parent.
-*The parents of an individual with an [[Autosome|autosomal]] [[Recessive gene|recessive]] condition each carry one copy of the [[Mutation|mutated]] gene, but they typically do not show signs and symptoms of the condition.
-*If an individual receives one normal [[gene]] and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.
-*The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy.
-*The risk to have a child who is a carrier like the parents is 50% with each pregnancy.
-*The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.
-*Consanguineous marriages have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.
 ===Microscopic findings===
-The following changes are seen in the muscle on muscle biopsy and electron microscopy:<ref name="pmid4243256">{{cite journal| author=Bonilla E, Schotland DL| title=Histochemical diagnosis of muscle phosphofructokinase deficiency. | journal=Arch Neurol | year= 1970 | volume= 22 | issue= 1 | pages= 8-12 | pmid=4243256 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4243256  }} </ref><ref name="pmid10365541">{{cite journal| author=Lin HC, Young C, Wang PJ, Shen YZ| title=Muscle phosphofructokinase deficiency (Tarui's disease): report of a case. | journal=J Formos Med Assoc | year= 1999 | volume= 98 | issue= 3 | pages= 205-8 | pmid=10365541 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10365541  }} </ref><ref name="pmid6943439">{{cite journal| author=Hays AP, Hallett M, Delfs J, Morris J, Sotrel A, Shevchuk MM et al.| title=Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. | journal=Neurology | year= 1981 | volume= 31 | issue= 9 | pages= 1077-86 | pmid=6943439 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6943439  }} </ref>
+The following changes are seen in the muscle on [[muscle]] biopsy:<ref name="pmid4243256">{{cite journal| author=Bonilla E, Schotland DL| title=Histochemical diagnosis of muscle phosphofructokinase deficiency. | journal=Arch Neurol | year= 1970 | volume= 22 | issue= 1 | pages= 8-12 | pmid=4243256 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4243256  }} </ref><ref name="pmid10365541">{{cite journal| author=Lin HC, Young C, Wang PJ, Shen YZ| title=Muscle phosphofructokinase deficiency (Tarui's disease): report of a case. | journal=J Formos Med Assoc | year= 1999 | volume= 98 | issue= 3 | pages= 205-8 | pmid=10365541 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10365541  }} </ref><ref name="pmid6943439">{{cite journal| author=Hays AP, Hallett M, Delfs J, Morris J, Sotrel A, Shevchuk MM et al.| title=Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. | journal=Neurology | year= 1981 | volume= 31 | issue= 9 | pages= 1077-86 | pmid=6943439 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6943439  }} </ref>
-'''Muscle biopsy:'''
 * Muscle fiber [[necrosis]]
 * Increased variation in the fibre size
 * Ring fibers
-* Endomyosial fibrosis
+* Endomyosial [[fibrosis]]
-* Moderate excess of subsarcolemmal [[glycogen]] accumulation on periodic acid-schiff(PAS) staining.
+* Moderate excess of subsarcolemmal [[glycogen]] accumulation on [[periodic acid-Schiff]] (PAS) staining
-* In 10% of muscle fibers, diastase-resistant, long filamentous [[inclusions]] are seen.
+* In 10% of [[muscle]] fibers, diastase-resistant, long filamentous [[inclusions]] are seen
-* Iodine absorption spectra of both the inclusions and a diastase-resistant fraction of isolated glycogen resembled [[amylopectin]].
+* Iodine absorption spectra of both the inclusions and a diastase-resistant fraction of isolated glycogen resembled [[amylopectin]]
-* The abnormal polysaccharide in PFK deficiency may be related to greatly elevated concentration of muscle glucose-6-phosphate, an activator of the chain-elongating enzyme glycogen synthase.
+* The abnormal [[polysaccharide]] in PFK deficiency may be related to greatly elevated concentration of muscle [[glucose-6-phosphate]], an activator of the chain-elongating enzyme [[glycogen synthase]]
 ==Causes==
-*Glycogen storage disease type VII is inherited as an autosomal recessive genetic disorder.
+*Glycogen storage disease type VII is inherited as an [[Autosome|autosomal]] recessive [[Genetics|genetic]] disorder.
-*GSD type VII is caused by mutation of phosphofructokinase gene in the muscle that results in a deficiency of the phosphofructokinase enzyme which converts fructose-6-phosphate to fructose-1,6-diphosphate.
+*GSD type VII is caused by [[mutation]] of [[phosphofructokinase]] gene located at 12q13 for the M ([[muscle]] isoform) that results in a deficiency of the [[phosphofructokinase]] enzyme which converts [[fructose-6-phosphate]] to fructose-1,6-diphosphate.<ref name="pmid8661033">{{cite journal| author=Howard TD, Akots G, Bowden DW| title=Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q. | journal=Genomics | year= 1996 | volume= 34 | issue= 1 | pages= 122-7 | pmid=8661033 | doi=10.1006/geno.1996.0250 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8661033  }} </ref>
-*This is the rate-limiting step in the metabolism of the glucose into available energy, if the phosphofructokinase is deficient, energy is not available to muscles during heavy exercise and hence pain and cramps occur in the muscle.
+*This is the rate-limiting step in the [[metabolism]] of the [[glucose]] into available energy, if the [[phosphofructokinase]] is deficient, energy is not available to muscles during heavy [[Physical exercise|exercise]] and hence pain and [[Cramp|cramps]] occur in the muscle.
-==Differentiating Tarui disease from Other Diseases==
+==Differentiating Glycogen Storage Disease Type VII from Other Diseases==
+<small>
-{| class="sortable wikitable"
+{|
-| '''Number''' || '''Enzyme deficiency''' || '''Eponym''' || '''Incidence''' || '''[[Hypoglycemia|Hypo-<br>glycemia]]?''' || '''[[Hepatomegaly|Hepato-<br>megaly]]?''' || '''[[Hyperlipidemia|Hyperlip-<br>idemia]]?''' || '''Muscle symptoms''' || '''Development/ prognosis''' || '''Other symptoms'''
+! 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>
+| 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]]
 |-
-| [[Glycogen storage disease type I|GSD type I]] || [[glucose-6-phosphatase]] || [[von Gierke's disease]] || 1 in 50,000<ref name="Roth" />- 100,000<ref>[http://www.agsdus.org/html/typeivongierke.htm The Association for Glycogen Storage Disease > Type I Glycogen Storage Disease Type I GSD] This page was created in October 2006.</ref> births || Yes || Yes || Yes || None || [[Growth failure]] || [[Lactic acidosis]], [[hyperuricemia]]
+| 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]]
 |-
-| [[Glycogen storage disease type II|GSD type II]] || [[acid maltase]] || [[Pompe's disease]] || 1 in 60,000- 140,000 births<ref name="Ausems" /> || No || Yes || No || [[Muscle weakness]] || *Death by age ~2 years (infantile variant) || [[heart failure]]
+| 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" + | -
 |-
-| [[Glycogen storage disease type III|GSD type III]]  || [[glycogen debrancher]] || [[Cori's disease]] or [[Forbes' disease]] || 1 in 100,000 births || Yes ||  Yes || Yes || [[Myopathy]] || ||
+| 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
 |-
-| [[Glycogen storage disease type IV|GSD type IV]]  || [[glycogen branching enzyme]] || [[Andersen disease]] || || No ||  Yes,<br> also <br> [[cirrhosis]] || No || None || [[Failure to thrive]], death at age ~5 years ||
+| 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'''
- | [[Glycogen storage disease type V|GSD type V]]  || [[muscle glycogen phosphorylase]] || [[McArdle disease]] || 1 in 100,000<ref>http://mcardlesdisease.org/</ref> || No ||  No || No ||Exercise-induced cramps, [[Rhabdomyolysis]] || || [[Renal failure]] by [[myoglobinuria]]
+| style="background:#F5F5F5;" align="center" + |Hepatic [[glycogen synthase]]
- |-
+| style="background:#F5F5F5;" align="center" + |GYS2 gene mutation (liver)
- | [[Glycogen storage disease type VI|GSD type VI]]   || [[liver glycogen phosphorylase]] || [[Hers' disease]] || 1 in 65,000- 85,000 births<ref name="Ierardi-Curto">[http://emedicine.medscape.com/article/950587-overview eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases > Glycogen-Storage Disease Type VI] Author: Lynne Ierardi-Curto, MD, PhD. Updated: Aug 4, 2008</ref> || Yes ||  Yes|| No ||None || ||
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
- |-
+| style="background:#F5F5F5;" align="center" + |12p12
- | [[Glycogen storage disease type VII|GSD type VII]]  || [[phosphofructokinase 1|muscle phosphofructokinase]] || [[Tarui's disease]] ||  ||  No ||  No || No ||Exercise-induced muscle cramps and weakness || [[growth retardation]] || [[Haemolytic anaemia]]
+| style="background:#F5F5F5;" align="center" + | +
- |-
+| style="background:#F5F5F5;" align="center" + | -
- | [[Glycogen storage disease type IX|GSD type IX]]  || [[phosphorylase kinase]], [[PHKA2]] || -  || || Yes ||  No || Yes || None || [[Delayed motor development]], [[Growth retardation]] ||
+| style="background:#F5F5F5;" align="center" + | -
- |-
+| style="background:#F5F5F5;" align="center" + | -
- | [[Glycogen storage disease type XI|GSD type XI]]  || [[glucose transporter]], [[GLUT2]] || [[Fanconi-Bickel syndrome]] || || Yes ||  Yes || No || None || ||
+| style="background:#F5F5F5;" align="center" + | -
- |-
+| style="background:#F5F5F5;" align="center" + | -
- | [[Glycogen storage disease type XII|GSD type XII]]  || [[Aldolase A]] || [[Red cell aldolase deficiency]] ||  || ? || ? || ? || [[Exercise intolerance]], [[cramps]] || ||
+| style="background:#F5F5F5;" + |
- |-
+* Fasting [[hypoglycemia]] and [[ketosis]]
- | [[Glycogen storage disease type XIII|GSD type XIII]]  || [[enolase|β-enolase]] || - ||  || ? || ? || ? || [[Exercise intolerance]], [[cramps]] || Increasing intensity of [[myalgia|myalgias]] over decades<ref name="Httpneuromuscularwustledumsysglycogenhtmlenolase">http://neuromuscular.wustl.edu/msys/glycogen.html#enolase</ref> || [[Creatine kinase|Serum CK]]: Episodic elevations; Reduced with rest<ref name="Httpneuromuscularwustledumsysglycogenhtmlenolase" /> ||
+* Postprandial [[hyperglycemia]] and [[Lactic acidosis (patient information)|lactic acidosis]]
- |-
- | [[Glycogen storage disease type 0|GSD type 0]]  || [[glycogen synthase]]  || - ||  || Yes ||  No || No || Occasional [[muscle cramp]]ing || ||
 |}
+</small>
 ==Epidemiology and Demographics==
 The epidemiology and demographics of the Glycogen storage disease type VII are as follows:<ref name="pmid14718702">{{cite journal |vauthors=Haller RG, Vissing J |title=No spontaneous second wind in muscle phosphofructokinase deficiency |journal=Neurology |volume=62 |issue=1 |pages=82–6 |year=2004 |pmid=14718702 |doi= |url=}}</ref><ref name="pmid8659544">{{cite journal| author=Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N| title=Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions. | journal=Am J Hum Genet | year= 1996 | volume= 59 | issue= 1 | pages= 59-65 | pmid=8659544 | doi= | pmc=1915105 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8659544  }} </ref><ref name="pmidMCID: PMC1915105">{{cite journal| author=Scrocchi LA, Jones LA| title=Alteration of proto-oncogene c-fos expression in neonatal estrogenized BALB/c female mice & murine cervicovaginal tumor LJ6195. | journal=Endocrinology | year= 1991 | volume= 129 | issue= 4 | pages= 2251-3 | pmid=MCID: PMC1915105 | doi=10.1210/endo-129-4-2251 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1915105  }} </ref>
-*[[Glycogen]] [[Glycogen storage disease|storage]] disease type VII is thought to be a rare condition; more than 100 cases have been described in the scientific literature.
+*[[Glycogen]] [[Glycogen storage disease|storage]] disease type VII is considered a rare condition; however, more than 100 cases have been found in the literature.
-*The incidence of [[Glycogen storage disease|Glycogen]] storage disease type VII is 2.3 children per 100,000 births per year.
+*The incidence of glycogen storage disease type VII is 2.3 children per 100,000 births per year.
 *[[Glycogen storage disease|Glycogen]] storage disease type VII commonly affects children, all [[Patient|patients]] of reported cases died by age 4 years.
-*[[Glycogen storage disease|Glycogen]] storage disease type VII usually affects individuals of the individuals of Japanese and Ashkenazi Jewish descent.
+*[[Glycogen storage disease|Glycogen]] storage disease type VII usually affects individuals of the Japanese and Ashkenazi Jewish descent.
-*Some disease-causing [[Mutation|mutations]] have been found in the PFK-M gene in Japanese, Ashkenazi Jewish, Italian, French Canadian, and Swiss patients.
+*Some disease-causing [[Mutation|mutations]] have been found in the PFK-M gene in Italian, French Canadian, and Swiss patients.
 *[[Glycogen storage disease|Glycogen]] storage disease type VII affects men and women equally.
 ==Risk Factors==
-* Consanguineous marriages have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.
+* The most potent risk factor in the development of glycogen storage disease type VII is a sibling with glycogen storage disease type VII.
 ==Screening==
@@ Line 126: / Line 371: @@
 == Natural History, Complications, and Prognosis ==
-Common complications of Tarui's disease include:
+'''Complications:'''
+Common complications of glycogen storage disease type VII disease include:<ref name="pmid17608317">{{cite journal| author=Al-Hassnan ZN, Al Budhaim M, Al-Owain M, Lach B, Al-Dhalaan H| title=Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course. | journal=J Child Neurol | year= 2007 | volume= 22 | issue= 1 | pages= 106-8 | pmid=17608317 | doi=10.1177/0883073807299968 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17608317  }} </ref><ref name="pmid26108272">{{cite journal| author=Wu PL, Yang YN, Tey SL, Yang CH, Yang SN, Lin CS| title=Infantile form of muscle phosphofructokinase deficiency in a premature neonate. | journal=Pediatr Int | year= 2015 | volume= 57 | issue= 4 | pages= 746-9 | pmid=26108272 | doi=10.1111/ped.12616 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26108272  }} </ref>
 * Extertional [[rhabdomyolysis]]
 * [[Renal insufficiency|Renal failure]]
 * [[Gout]]
 * [[Hyperuricemia]]
-* Erythrocyte [[hemolysis]]
+* [[Red blood cell|Erythrocyte]] [[hemolysis]]
 * [[Pneumonia]]
 * [[Respiratory failure|Respiratory]] failure
+* [[Gallstone disease|Gallstones]]
 ==Diagnosis==
 ===Diagnostic study of choice===
 * Biochemical enzyme activity<ref name="pmid27066546">{{cite journal| author=Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S et al.| title=PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry. | journal=Neurol Genet | year= 2015 | volume= 1 | issue= 1 | pages= e7 | pmid=27066546 | doi=10.1212/NXG.0000000000000007 | pmc=4821086 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27066546  }} </ref><ref name="pmid8208408">{{cite journal| author=Argov Z, Barash V, Soffer D, Sherman J, Raben N| title=Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder? | journal=Neurology | year= 1994 | volume= 44 | issue= 6 | pages= 1097-100 | pmid=8208408 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8208408  }} </ref><ref name="pmid7603525">{{cite journal| author=Raben N, Sherman JB, Adams E, Nakajima H, Argov Z, Plotz P| title=Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease). | journal=Muscle Nerve Suppl | year= 1995 | volume= 3 | issue=  | pages= S35-8 | pmid=7603525 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7603525  }} </ref>
-* Molecular genetics
+* [[Molecular genetics]]
 ===History and Symptoms===
-The hallmark of tarui disease is muscle exercise intolerance.<ref name="pmid22995305">{{cite journal| author=Brüser A, Kirchberger J, Schöneberg T| title=Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease. | journal=Biochem Biophys Res Commun | year= 2012 | volume= 427 | issue= 1 | pages= 133-7 | pmid=22995305 | doi=10.1016/j.bbrc.2012.09.024 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22995305  }} </ref>
+The hallmark of glycogen storage disease type VII is muscle exercise intolerance.<ref name="pmid22995305">{{cite journal| author=Brüser A, Kirchberger J, Schöneberg T| title=Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease. | journal=Biochem Biophys Res Commun | year= 2012 | volume= 427 | issue= 1 | pages= 133-7 | pmid=22995305 | doi=10.1016/j.bbrc.2012.09.024 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22995305  }} </ref>
-The most common symptoms of tarui disease include: <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="pmid2966901">{{cite journal| author=Danon MJ, Servidei S, DiMauro S, Vora S| title=Late-onset muscle phosphofructokinase deficiency. | journal=Neurology | year= 1988 | volume= 38 | issue= 6 | pages= 956-60 | pmid=2966901 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2966901  }} </ref><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>
+The specific areas of focus when obtaining patient history include:
-* [[Muscle]] [[Cramp|cramps]]
-* [[Muscle]] [[tenderness]]
-* Progressive [[muscle]] weakness
-* Hematuria
-* [[Hypoglycemia]]
-* [[Nausea and vomiting|Vomiting]]
-{| class="wikitable"
-!Historical features
-!Common symptoms
-!Less common symptoms
-|-
-|
 * Muscle weakness following a high carbohydrate meal
 * Muscle [[Physical exercise|exercise]] intolerance
 * Slowly progressive limb weakness with or without [[myoglobinuria]] or [[Cramp|cramps]]
-|
+'''Most common symptoms'''
+The most common symptoms of glycogen storage disease type VII include:<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="pmid2966901">{{cite journal| author=Danon MJ, Servidei S, DiMauro S, Vora S| title=Late-onset muscle phosphofructokinase deficiency. | journal=Neurology | year= 1988 | volume= 38 | issue= 6 | pages= 956-60 | pmid=2966901 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2966901  }} </ref><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>
 * [[Muscle]] [[Cramp|cramps]]
 * [[Muscle]] [[tenderness]]
-* Progressive [[muscle]] weakness
+* Progressive [[muscle weakness]]
-* [[Myoglobinuria]]
+* [[Hematuria]]
 * [[Hypoglycemia]]
 * [[Nausea and vomiting|Vomiting]]
-|
+Less common symptoms
 * [[Cortical blindness|Cortical]] blindness
-* [[Red blood cell|Erythrocyte]] hemolysis
+* [[Red blood cell|Erythrocyte]] [[hemolysis]]
-|}
+===Physical Examination===
-Less common symptoms of tarui disease include:
+Physical examination of patients with glycogen storage disease type VII is usually remarkable for:<ref name="MusumeciBruno2012">{{cite journal|last1=Musumeci|first1=Olimpia|last2=Bruno|first2=Claudio|last3=Mongini|first3=Tiziana|last4=Rodolico|first4=Carmelo|last5=Aguennouz|first5=M’hammed|last6=Barca|first6=Emanuele|last7=Amati|first7=Angela|last8=Cassandrini|first8=Denise|last9=Serlenga|first9=Luigi|last10=Vita|first10=Giuseppe|last11=Toscano|first11=Antonio|title=Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)|journal=Neuromuscular Disorders|volume=22|issue=4|year=2012|pages=325–330|issn=09608966|doi=10.1016/j.nmd.2011.10.022}}</ref><ref name="pmid2945125">{{cite journal| author=Servidei S, Bonilla E, Diedrich RG, Kornfeld M, Oates JD, Davidson M et al.| title=Fatal infantile form of muscle phosphofructokinase deficiency. | journal=Neurology | year= 1986 | volume= 36 | issue= 11 | pages= 1465-70 | pmid=2945125 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2945125  }} </ref><ref name="pmid1533013">{{cite journal| author=Amit R, Bashan N, Abarbanel JM, Shapira Y, Sofer S, Moses S| title=Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. | journal=Muscle Nerve | year= 1992 | volume= 15 | issue= 4 | pages= 455-8 | pmid=1533013 | doi=10.1002/mus.880150406 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1533013  }} </ref>
-* [[Cortical blindness|Cortical]] blindness
-* [[Red blood cell|Erythrocyte]] hemolysis
+'''Neuromuscular'''
-===Physical Examination===
-Physical examination of patients with tarui disease is usually remarkable for:<ref name="MusumeciBruno2012">{{cite journal|last1=Musumeci|first1=Olimpia|last2=Bruno|first2=Claudio|last3=Mongini|first3=Tiziana|last4=Rodolico|first4=Carmelo|last5=Aguennouz|first5=M’hammed|last6=Barca|first6=Emanuele|last7=Amati|first7=Angela|last8=Cassandrini|first8=Denise|last9=Serlenga|first9=Luigi|last10=Vita|first10=Giuseppe|last11=Toscano|first11=Antonio|title=Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)|journal=Neuromuscular Disorders|volume=22|issue=4|year=2012|pages=325–330|issn=09608966|doi=10.1016/j.nmd.2011.10.022}}</ref><ref name="pmid2945125">{{cite journal| author=Servidei S, Bonilla E, Diedrich RG, Kornfeld M, Oates JD, Davidson M et al.| title=Fatal infantile form of muscle phosphofructokinase deficiency. | journal=Neurology | year= 1986 | volume= 36 | issue= 11 | pages= 1465-70 | pmid=2945125 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2945125  }} </ref><ref name="pmid1533013">{{cite journal| author=Amit R, Bashan N, Abarbanel JM, Shapira Y, Sofer S, Moses S| title=Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. | journal=Muscle Nerve | year= 1992 | volume= 15 | issue= 4 | pages= 455-8 | pmid=1533013 | doi=10.1002/mus.880150406 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1533013  }} </ref>
 * [[Muscle]] [[atrophy]]
 * [[Arthrogryposis]](congenital joint contracture)
-* [[Hypertrophic cardiomyopathy]]
+'''Cardiovascular'''
-* Paroxysmal [[Atrial fibrillation|atrial]] fibrillation
+* [[Hypertrophic cardiomyopathy]]
-{| class="wikitable"
+* Paroxysmal [[atrial fibrillation]]
-! colspan="3" |Physical examination findings
+'''Ophthalmology'''
-!
+* [[Cornea|Corneal]] opacity
-|-
-|Neuromuscular
-|Gastrointestinal
-|Cardiovascular
-|Ophthalmology
-|-
-|
-* [[Muscle]] [[atrophy]]
-* [[Arthrogryposis]](congenital joint contracture)
-|[[Hepatomegaly]]
-|
-* [[Hypertrophic cardiomyopathy|Hypertrophic]] cardiomyopathy
-* Paroxysmal [[Atrial fibrillation|atrial]] fibrillation
-|[[Cornea|Corneal]] opacity
-|}
 ===Laboratory Findings===
-The following laboratory findings are seen in tarui disease:<ref name="pmid3473284">{{cite journal| author=Mineo I, Kono N, Hara N, Shimizu T, Yamada Y, Kawachi M et al.| title=Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII. | journal=N Engl J Med | year= 1987 | volume= 317 | issue= 2 | pages= 75-80 | pmid=3473284 | doi=10.1056/NEJM198707093170203 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3473284  }} </ref><ref name="pmid3861621">{{cite journal| author=Mineo I, Kono N, Shimizu T, Hara N, Yamada Y, Sumi S et al.| title=Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII. | journal=J Clin Invest | year= 1985 | volume= 76 | issue= 2 | pages= 556-60 | pmid=3861621 | doi=10.1172/JCI112006 | pmc=423860 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3861621  }} </ref><ref name="pmid8976117">{{cite journal| author=Yamasaki T, Hamaguchi T, Nakajima H, Matsuzawa Y| title=[Myogenic hyperuricemia]. | journal=Nihon Rinsho | year= 1996 | volume= 54 | issue= 12 | pages= 3343-8 | pmid=8976117 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8976117  }} </ref><ref name="pmid7603532">{{cite journal| author=Mineo I, Tarui S| title=Myogenic hyperuricemia: what can we learn from metabolic myopathies? | journal=Muscle Nerve Suppl | year= 1995 | volume= 3 | issue=  | pages= S75-81 | pmid=7603532 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7603532  }} </ref>
+The following laboratory findings are seen in glycogen storage disease type VII:<ref name="pmid3473284">{{cite journal| author=Mineo I, Kono N, Hara N, Shimizu T, Yamada Y, Kawachi M et al.| title=Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII. | journal=N Engl J Med | year= 1987 | volume= 317 | issue= 2 | pages= 75-80 | pmid=3473284 | doi=10.1056/NEJM198707093170203 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3473284  }} </ref><ref name="pmid3861621">{{cite journal| author=Mineo I, Kono N, Shimizu T, Hara N, Yamada Y, Sumi S et al.| title=Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII. | journal=J Clin Invest | year= 1985 | volume= 76 | issue= 2 | pages= 556-60 | pmid=3861621 | doi=10.1172/JCI112006 | pmc=423860 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3861621  }} </ref><ref name="pmid8976117">{{cite journal| author=Yamasaki T, Hamaguchi T, Nakajima H, Matsuzawa Y| title=[Myogenic hyperuricemia]. | journal=Nihon Rinsho | year= 1996 | volume= 54 | issue= 12 | pages= 3343-8 | pmid=8976117 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8976117  }} </ref><ref name="pmid7603532">{{cite journal| author=Mineo I, Tarui S| title=Myogenic hyperuricemia: what can we learn from metabolic myopathies? | journal=Muscle Nerve Suppl | year= 1995 | volume= 3 | issue=  | pages= S75-81 | pmid=7603532 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7603532  }} </ref>
 '''More common findings'''
@@ Line 214: / Line 433: @@
 * [[Hemolytic anemia]]
 * Mild [[Jaundice|hyperbilirubinemia]]
-{| class="wikitable"
+'''Laboratory findings seen after [[Physical exercise|exercise]]'''
-! colspan="2" |Laboratory findings
-|-
-|'''More common findings'''
-|'''Less common findings'''
-|-
-|
-* Elevated serum [[Creatine kinase|creatine]] kinase
-* Reduced red blood cell [[phosphofructokinase]] activity.
-* [[Reticulocyte|Reticulocytosis]]
-* [[Hyperuricemia]]
-* [[Myoglobinuria]]
-|
-* [[Hemolytic anemia]]
-* Mild [[Jaundice|hyperbilirubinemia]]
-|-
-| colspan="2" |'''Laboratory findings seen after [[Physical exercise|exercise]]'''
 High concentrations of:
 * [[Ammonia]]
 * [[Inosine]]
 * [[Hypoxanthine]]
-|}
 ===Electrocardiogram===
-There are no ECG findings associated with Tarui's disease.
+There are no ECG findings associated with glycogen storage disease type VII.
 ===X-ray===
-There are no x-ray findings associated with Tarui's disease.
+There are no x-ray findings associated with glycogen storage disease type VII.
-===Echocardiography or Ultrasound===
+===Ultrasound===
-Ultrasound abdomen may be helpful in the diagnosis of hepatomegaly.
+Ultrasound abdomen may be helpful in the diagnosis of [[hepatomegaly]].
 ===CT scan===
-There are no CT scan findings associated with Tarui's disease.
+There are no CT scan findings associated with glycogen storage disease type VII.
 ===MRI===
-There are no MRI findings associated with Tarui's disease.
+There are no MRI findings associated with glycogen storage disease type VII.
 ===Other Imaging Findings===
-There are no other imaging findings associated with Tarui's disease.
+There are no other imaging findings associated with glycogen storage disease type VII.
 ===Other Diagnostic Studies===
-* Muscle enzyme assay and DNA testing are helpful in the diagnosis of tarui disease.
+* [[Muscle]] [[enzyme]] assay and [[DNA]] testing are helpful in the diagnosis of [[Glycogen storage disease|glycogen]] storage disease type VII.
 ==Treatment==
 ===Medical Therapy===
-* There is no medical treatment for glycogen storage disease type 7.
+* There is no medical treatment for glycogen storage disease type VII.
 * The mainstay of therapy is supportive care.
 ===Surgery===
-* Surgical intervention is not recommended for the management of glycogen storage disease type 7.
+* Surgical intervention is not recommended for the management of glycogen storage disease type VII.
 ===Primary Prevention===
-* '''Genetic counseling:''' [[Genetic counseling]] should be offered to all parents with a child with GSD type 7 and to all adults with GSD type 7.
+* '''Genetic counseling:''' [[Genetic counseling]] should be offered to all parents with a child with glycogen storage disease type VII and to all adults with glycogen storage disease type VII.
 * '''Prenatal diagnosis:''' The preferred method for [[prenatal diagnosis]] is molecular testing when PFK [[mutation]] is known. Mutation analysis is performed either on cultured [[Chorionic villus sampling|chorionic villus]] samples or [[Amniocyte|amniocytes]].
 * '''Screening:''' The [[Probands|proband's]] PFK [[Mutation|mutations]] should be determined for diagnosis and direct further testing for family members.
 ===Secondary Prevention===
-Effective measures for the secondary prevention of Tarui disease include:<ref name="SwobodaSpecht1997">{{cite journal|last1=Swoboda|first1=Kathryn J.|last2=Specht|first2=Linda|last3=Jones|first3=H.Royden|last4=Shapiro|first4=Frederic|last5=DiMauro|first5=Salvatore|last6=Korson|first6=Mark|title=Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet|journal=The Journal of Pediatrics|volume=131|issue=6|year=1997|pages=932–934|issn=00223476|doi=10.1016/S0022-3476(97)70048-9}}</ref><ref name="pmid10916683">{{cite journal| author=Fujii H, Miwa S| title=Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency. | journal=Baillieres Best Pract Res Clin Haematol | year= 2000 | volume= 13 | issue= 1 | pages= 141-8 | pmid=10916683 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10916683  }} </ref>
+Effective measures for the secondary prevention of glycogen storage disease type VII include:<ref name="SwobodaSpecht1997">{{cite journal|last1=Swoboda|first1=Kathryn J.|last2=Specht|first2=Linda|last3=Jones|first3=H.Royden|last4=Shapiro|first4=Frederic|last5=DiMauro|first5=Salvatore|last6=Korson|first6=Mark|title=Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet|journal=The Journal of Pediatrics|volume=131|issue=6|year=1997|pages=932–934|issn=00223476|doi=10.1016/S0022-3476(97)70048-9}}</ref><ref name="pmid10916683">{{cite journal| author=Fujii H, Miwa S| title=Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency. | journal=Baillieres Best Pract Res Clin Haematol | year= 2000 | volume= 13 | issue= 1 | pages= 141-8 | pmid=10916683 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10916683  }} </ref>
-* Avoidance of strenuous exercise
+* Avoidance of strenuous [[Physical exercise|exercise]]
 * High carbohydrate meal: Consumption of high carbohydrate meal should be avoided before exercise.
-* Ketogenic diet
+* [[Ketogenic diet|Ketogenic]] diet
 ==References==
@@ Line 284: / Line 486: @@
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+[[Category:Endocrinology]]
+[[Category:Hepatology]]
+[[Category:Gastroenterology]]
+[[Category:Pediatrics]]
+[[Category:Up-To-Date]]
+[[Category:Genetic disorders]]
+[[Category:Metabolic disorders]]