Glycogen storage disease
You don't need to be Editor-In-Chief to add or edit content to WikiDoc. You can begin to add to or edit text on this WikiDoc page by clicking on the edit button at the top of this page. Next enter or edit the information that you would like to appear here. Once you are done editing, scroll down and click the Save page button at the bottom of the page.
| Glycogen storage disease Classification and external resources | |
 | |
|---|---|
| Glycogen | |
| ICD-10 | E74.0 |
| ICD-9 | 271.0 |
| MeSH | D006008 |
Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [1] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch. Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2] Phone:617-525-6884
Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [3] Phone:617-525-7431
Please Join in Editing This Page and Apply to be an Editor-In-Chief for this topic:
There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [4] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.
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 .
