Sandbox SSW

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

Overview

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]; Associate Editor(s)-in-Chief:

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.

Number	Enzyme deficiency	Eponym	Incidence	Hypo- glycemia?	Hepato- megaly?	Hyperlip- idemia?	Muscle symptoms	Development/ prognosis	Other symptoms
GSD type I	glucose-6-phosphatase	von Gierke's disease	1 in 50,000- 100,000 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

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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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