Glycogen storage disease

Glycogen storage disease
Glycogen
ICD-10	E74.0
ICD-9	271.0
MeSH	D006008

WikiDoc Resources for Glycogen storage disease
Articles
Most recent articles on Glycogen storage disease Most cited articles on Glycogen storage disease Review articles on Glycogen storage disease Articles on Glycogen storage disease in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Glycogen storage disease Images of Glycogen storage disease Photos of Glycogen storage disease Podcasts & MP3s on Glycogen storage disease Videos on Glycogen storage disease
Evidence Based Medicine
Cochrane Collaboration on Glycogen storage disease Bandolier on Glycogen storage disease TRIP on Glycogen storage disease
Clinical Trials
Ongoing Trials on Glycogen storage disease at Clinical Trials.gov Trial results on Glycogen storage disease Clinical Trials on Glycogen storage disease at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Glycogen storage disease NICE Guidance on Glycogen storage disease NHS PRODIGY Guidance FDA on Glycogen storage disease CDC on Glycogen storage disease
Books
Books on Glycogen storage disease
News
Glycogen storage disease in the news Be alerted to news on Glycogen storage disease News trends on Glycogen storage disease
Commentary
Blogs on Glycogen storage disease
Definitions
Definitions of Glycogen storage disease
Patient Resources / Community
Patient resources on Glycogen storage disease Discussion groups on Glycogen storage disease Patient Handouts on Glycogen storage disease Directions to Hospitals Treating Glycogen storage disease Risk calculators and risk factors for Glycogen storage disease
Healthcare Provider Resources
Symptoms of Glycogen storage disease Causes & Risk Factors for Glycogen storage disease Diagnostic studies for Glycogen storage disease Treatment of Glycogen storage disease
Continuing Medical Education (CME)
CME Programs on Glycogen storage disease
International
Glycogen storage disease en Espanol Glycogen storage disease en Francais
Business
Glycogen storage disease in the Marketplace Patents on Glycogen storage disease
Experimental / Informatics
List of terms related to Glycogen storage disease

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Overview

Glycogen storage disease (synonyms: glycogenosis, dextrinosis) is any one of several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

Types

There are eleven (11) distinct diseases that are commonly considered to be glycogen storage diseases (some previously thought to be distinct have been reclassified). (Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems.)

• GSD type VIII: In the past, considered a distinct condition. Now classified with VI. Has been described as X-linked recessive.

• GSD type X: In the past, considered a distinct condition. Now classified with VI. births || Yes || Yes || Yes|| None || Growth failure || Lactic acidosis, hyperuricemia

|-
| GSD type II  || acid maltase || Pompe's disease || 1 in 60,000- 140,000 births || No || Yes || No || Muscle weakness || *Death by age ~2 years (infantile variant) || heart failure
|-
| GSD type III  || glycogen debrancher || Cori's disease or Forbes' disease || 1 in 100,000 births || Yes ||  Yes || Yes || Myopathy || ||
|-
| GSD type IV  || glycogen branching enzyme || Andersen disease || || No ||  Yes,
 also 
 cirrhosis || No || None || Failure to thrive, death at age ~5 years ||
|-
| GSD type V  || muscle glycogen phosphorylase || McArdle disease || 1 in 100,000 || No ||  No || No ||Exercise-induced cramps, Rhabdomyolysis || || Renal failure by myoglobinuria
|-
| GSD type VI   || liver glycogen phosphorylase || Hers' disease || 1 in 65,000- 85,000 births || Yes ||  Yes|| No ||None || ||
|-
| GSD type VII  || muscle phosphofructokinase || Tarui's disease ||  ||  No ||  No || No ||Exercise-induced muscle cramps and weakness || growth retardation || Haemolytic anaemia
|-
| GSD type IX  || phosphorylase kinase, PHKA2 || -  || || Yes ||  No || Yes || None || Delayed motor development, Growth retardation ||
|-
| GSD type XI  || glucose transporter, GLUT2 || Fanconi-Bickel syndrome || || Yes ||  Yes || No || None || ||
|-
| GSD type XII  || Aldolase A || Red cell aldolase deficiency ||  || ? || ? || ? || Exercise intolerance, cramps || ||
|-
| GSD type XIII  || β-enolase || - ||  || ? || ? || ? || Exercise intolerance, cramps || Increasing intensity of myalgias over decades || Serum CK: Episodic elevations; Reduced with rest ||
|-
| GSD type 0  || glycogen synthase  || - ||  || Yes ||  No || No || Occasional muscle cramping || ||

|}

Gross Pathological Findings

Images shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission. © PEIR, University of Alabama at Birmingham, Department of Pathology

• 

  Pompe's Disease, Glycogen Storage Disease Type II. Child in crib

• 

  Pompe's Disease, Glycogen Storage Disease Type II

• 

  Pompe's Disease, Glycogen Storage Disease Type II

• 

  Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient

• 

  Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient

• 

  Pompe's Disease, Glycogen Storage Disease Type II

• 

  Pompe's Disease, Glycogen Storage Disease Type II

Microscopic Pathological Findings

Images shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission. © PEIR, University of Alabama at Birmingham, Department of Pathology

• 

  Muscle: Glycogen Storage Disease

• 

  Muscle: Glycogen Storage Disease

• 

  Nerve: Glycogen Storage Disease Macrophages; Longitudinal Section of Peripheral Nerve

Heart & Liver in Glycogen Storage Disease

{{#ev:youtube|inSkXkNK_dE}}

References

Template:WikiDoc Sources