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{{Glycogen storage disease type I}}
{{Glycogen storage disease type I}}
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==Overview==
==Overview==
Clinical manifestations result, directly or indirectly, from
The presentation of GSD type 1 may vary depending on the age of the patients. Glycogen storage disease type 1 commonly presents in [[infancy]] period (particularly age 3 - 6 months) with protruded  [[abdomen]] due to [[hepatomegaly]]. Neonates presents rarely with [[hypoglycemia]] and [[lactic acidosis]].
#inability to maintain an adequate blood glucose level during the post-absorptive hours of each day;
 
#organ changes due to glycogen accumulation;
#excessive lactic acid generation;
#damage to tissue from hyperuricemia;
#in GSD Ib, bleeding and infection risk from blood cell effects.
==History and Symptoms==
==History and Symptoms==
Several different problems may lead to the diagnosis, usually by two years of age:
The presentation of GSD type 1 may vary depending on the age of the patients.<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>
*seizures or other manifestations of severe fasting hypoglycemia;
*Presenting symptoms in [[neonatal]] period includes [[hypoglycemia]] and [[lactic acidosis]].
*hepatomegaly with abdominal protuberance;
*Patients presents commonly in [[infancy]] period (particularly 3 - 6 months) with [[hepatomegaly]] and signs and symptoms of [[hypoglycemia]].
*hyperventilation and apparent respiratory distress due to metabolic acidosis;
===History===
*episodes of vomiting due to metabolic acidosis, often precipitated by minor illness and accompanied by hypoglycemia.
Patients with glycogen storage disease type I may have a positive history of (usually by two years of age):<ref>Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/</ref><ref name="pmid17552001">{{cite journal |vauthors=Ozen H |title=Glycogen storage diseases: new perspectives |journal=World J. Gastroenterol. |volume=13 |issue=18 |pages=2541–53 |year=2007 |pmid=17552001 |pmc=4146814 |doi= |url=}}</ref>
===Hypoglycemia===
*[[Seizures]] or other manifestations of severe fasting [[hypoglycemia]]
[[Hypoglycemia]] is the central clinical problem, the one that is most damaging, and the one that most often prompts the initial diagnosis.
*[[Hepatomegaly]] with [[abdominal]] protuberance
Maternal glucose transferred across the [[placenta]] prevents hypoglycemia in a fetus with GSD I, but the liver is enlarged with glycogen at birth. The inability to generate and release glucose soon results in hypoglycemia, and occasionally in lactic acidosis fulminant enough to appear as a primary respiratory problem in the newborn period. Neurological manifestations are less severe than if the hypoglycemia were more acute. The brain's habituation to mild hypoglycemia is at least partly explained by use of alternative fuels, primarily lactate.
*[[Hyperventilation]] and apparent [[respiratory distress]] due to [[metabolic acidosis]]
 
*Episodes of [[vomiting]] due to [[metabolic acidosis]], often precipitated by a minor [[illness]] and accompanied by [[hypoglycemia]]
More commonly, infants with GSD I tolerate without obvious symptoms a chronic, mild hypoglycemia and compensated lactic acidosis between feedings. Blood glucose levels are typically 25 to 50 mg/dl (1.4-2.8 mM). These infants continue to need oral carbohydrates every few hours. Many never sleep through the night even in the second year of life. They may be pale, clammy, and irritable a few hours after a meal. [[Developmental delay]] is not an intrinsic or inevitable effect of glucose-6-phosphatase deficiency but is common if the diagnosis is not made in early infancy.
 
Although mild hypoglycemia for much of the day may go unsuspected, the metabolic adaptations described above make severe hypoglycemic episodes, with unconsciousness or seizure, uncommon before treatment. Episodes which occur are likely to happen in the morning before breakfast. GSD I is therefore a potential cause of [[ketotic hypoglycemia]] in young children.


Once the diagnosis has been made, the principal goal of treatment is to maintain an adequate glucose level and prevent hypoglycemia.
===Symptoms===
====Common symptoms====
Glycogen storage disease type 1 commonly presents in [[infancy]] period (particularly age 3 - 6 months). Symptoms include:<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="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="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>
*Protruded [[abdomen]] due to [[hepatomegaly]]
*Symptoms of acute [[metabolic]] derangement due to [[vomiting]], [[diarrhea]], and [[Infection|infections]]
*[[Failure to thrive]]
*[[Growth retardation]]
*Recurrent [[infections]] (particularly in GSD Ib patients) due to [[neutropenia]] and impaired [[neutrophil]] functions
*[[Muscular]] [[hypotonia]]
*Delayed psychomotor development
*Frequent [[lethargy]]
*Difficult [[arousal]] from overnight sleep
*[[Tremors]]
*Overwhelming [[hunger]]


===Hepatomegaly and liver problems===
====Less common symptoms====
The less common symptoms of glycogen storage disease type 1 include:<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="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="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>
*Neonatal [[hypoglycemia]]
**[[Seizure|Seizures]]
**[[Tremor|Tremors]]
**[[Irritability]]
**[[Cyanosis]]
**[[Apnea]]
**[[Coma]]
**[[Fatigue]]
*[[Lactic acidosis]]


Impairment of glycogenolysis also causes the characteristic [[hepatomegaly|enlargement of the liver]] due to accumulation of glycogen. Glycogen also accumulates in kidneys and small intestine. Hepatomegaly, usually without splenomegaly, begins to develop in fetal life and is usually noticeable in the first few months of life. By the time the child is standing and walking, the hepatomegaly may be severe enough to cause the abdomen to protrude. The liver edge is often at or below the level of the [[umbilicus]]. Other liver functions are usually spared, and [[liver enzymes]] and [[bilirubin]] are usually normal.
However, there is a risk of developing tumors of the liver by adolescence or adult ages, and periodic ultrasound examinations of the liver are recommended from late childhood onward. Occasional cases of various types of liver disease and failure have been reported in children and adults with GSD I.
===Lactic acidosis===
Impaired gluconeogenesis results in elevations of lactic acid (4-10 mM) even when the child is well. In an episode of metabolic decompensation, lactic acid levels abruptly rise and can exceed 15 mM, producing severe metabolic acidosis. Uric acid, ketoacids, and free fatty acids further increase the anion gap. Manifestations of severe metabolic acidosis include vomiting and [[hyperpnea]], which can exacerbate hypoglycemia by reducing oral intake. Repeated episodes of [[vomiting]] with hypoglycemia and [[dehydration]] may occur in infancy and childhood, precipitated by (or mimicking) [[infection]]s such as [[gastroenteritis]] or [[pneumonia]].
===Growth failure===
Without treatment, [[growth failure]] is common, due to chronically low insulin levels, persistent acidosis, chronic elevation of catabolic hormones, [[calorie]] insufficiency, and/or [[malabsorption]].
===Hyperlipidemia and blood vessel effects===
A secondary effect of low insulin levels is hypertriglyceridemia. Triglycerides in the 400–800 mg/dl range may produce visible [[lipaemia|lipemia]], and even a mild pseudohyponatremia due to a reduced aqueous fraction of the [[blood plasma|serum]]. [[Cholesterol]] is only mildly elevated.
===Hyperuricemia and joint problems===
A further effect of chronic lactic acidosis in GSD I is hyperuricemia, as lactic acid and uric acid compete for the same renal tubular transport mechanism. Increased purine catabolism is an additional contributing factor. Uric acid levels of 6-12 mg/dl are typical of GSD I. Allopurinol may be needed to prevent uric acid nephropathy and gout.
===Kidney effects===
Kidneys are usually 10 to 20% enlarged with stored [[glycogen]]. This does not usually cause clinical problems in childhood, with the occasional exception of a [[Fanconi syndrome]] with multiple derangements of [[renal tubular]] [[reabsorption]], including [[proximal renal tubular acidosis]] with [[bicarbonate]] and [[phosphate]] wasting. However, prolonged hyperuricemia can cause uric acid nephropathy. In adults with GSD I, chronic [[glomerular]] damage similar to [[diabetic nephropathy]] may lead to [[renal failure]].
===Bowel effects===
Intestinal involvement can cause mild [[malabsorption]] with sloppy stools but usually requires no treatment.
===Infection risk===
===Blood clotting problems===
Impaired platelet aggregation is an uncommon effect of chronic hypoglycemia. It may cause clinically significant bleeding, especially epistaxis.
===Neurodevelopmental effects===
[[Developmental delay]] is a potential secondary effect of chronic or recurrent hypoglycemia, but is at least theoretically preventable. Because normal brain and muscle cells contain no glucose-6-phosphatase, GSD I causes no other neuromuscular effects.
==References==
==References==
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{{reflist|2}}
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Latest revision as of 17:49, 30 November 2017

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

Overview

The presentation of GSD type 1 may vary depending on the age of the patients. Glycogen storage disease type 1 commonly presents in infancy period (particularly age 3 - 6 months) with protruded abdomen due to hepatomegaly. Neonates presents rarely with hypoglycemia and lactic acidosis.

History and Symptoms

The presentation of GSD type 1 may vary depending on the age of the patients.[1]

History

Patients with glycogen storage disease type I may have a positive history of (usually by two years of age):[2][3]

Symptoms

Common symptoms

Glycogen storage disease type 1 commonly presents in infancy period (particularly age 3 - 6 months). Symptoms include:[1][3][4]

Less common symptoms

The less common symptoms of glycogen storage disease type 1 include:[1][3][4]

References

  1. ↑ 1.0 1.1 1.2 Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J.; Burns Wechsler, Stephanie; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S. (2014). "Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics". Genetics in Medicine. doi:10.1038/gim.2014.128. ISSN 1098-3600.
  2. ↑ 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/
  3. ↑ 3.0 3.1 3.2 Ozen H (2007). "Glycogen storage diseases: new perspectives". World J. Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.
  4. ↑ 4.0 4.1 Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP (2002). "Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)". Eur. J. Pediatr. 161 Suppl 1: S20–34. doi:10.1007/s00431-002-0999-4. PMID 12373567.

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