Glycogen storage disease

Glycogen storage disease
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

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

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  Pompe's Disease, Glycogen Storage Disease Type II

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  Pompe's Disease, Glycogen Storage Disease Type II

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

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

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  Pompe's Disease, Glycogen Storage Disease Type II

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  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

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  Muscle: Glycogen Storage Disease

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  Muscle: Glycogen Storage Disease

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

Heart & Liver in Glycogen Storage Disease

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