Glycogen storage disease
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| Glycogen storage disease Classification and external resources | |
 | |
|---|---|
| Glycogen | |
| ICD-10 | E74.0 |
| ICD-9 | 271.0 |
| MeSH | D006008 |
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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 nine diseases that are commonly considered to be glycogen storage diseases. (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.)
| Number | Enzyme deficiency | Eponym |
| GSD type I | glucose-6-phosphatase | von Gierke's disease |
| GSD type II | acid maltase | Pompe's disease |
| GSD type III | glycogen debrancher | Cori's disease or Forbe's disease |
| GSD type IV | glycogen branching enzyme | Andersen disease |
| GSD type V | muscle glycogen phosphorylase | McArdle disease |
| GSD type VI | liver glycogen phosphorylase | Hers' disease |
| GSD type VII | muscle phosphofructokinase | Tarui's disease |
| GSD type IX | phosphorylase kinase | - |
| GSD type XI | glucose transporter | Fanconi-Bickel disease |
| GSD type 0 | glycogen synthase | - |
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 |
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
