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Glycogen storage disease
Overview
Classification Glycogen storage disease type I Glycogen storage disease type II Glycogen storage disease type III Glycogen storage disease type IV Glycogen storage disease type V Glycogen storage disease type VI Glycogen storage disease type VII
Pathophysiology
Differentiating Glycogen storage disease

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

Glycogen storage disease

Glycogen storage disease			Enzyme deficiency	Genetics			History and symptoms		Physical examination	Laboratory findings	Imaging
				Gene mutation	Inheritance	Chromosome	Hypoglycemia	Muscle weakness	Hepatomegaly	Elevated CK	Cardiomegaly
Glycogen storage disease type I	Von Gierke's disease	GSD type Ia	Glucose-6-phosphatase	G6PC gene mutation	Autosomal recessive	17q21	+
		GSD type Ib	Microsomal glucose-6-phosphate transporter	SLC37A4 gene mutation	Autosomal recessive	11q23	+
Glycogen storage disease type II	Pompe disease	Infantile onset	Alpha acid-glucosidase	GAA gene	Autosomal recessive	17q25
		Late onset			Autosomal recessive
Glycogen storage disease type III	Cori disease	GSD type IIIa	Debranching enzyme (deficiency in muscle and liver)	AGL gene mutation	Autosomal recessive	1p21
		GSD type IIIb	Debranching enzyme (deficiency in liver only)		Autosomal recessive
Glycogen storage disease type IV	Andersen's disease		Branching enzyme
Glycogen storage disease type V	McArdle disease		Muscle glycogen phosphorylase
Glycogen storage disease type VI	Hers' disease	Autosomal	Liver glycogen phosphorylase		Autosomal recessive
		X-linked			X-linked recessive
Glycogen storage disease type VII	Tauri's disease		Muscle phosphofruktokinase	PFKM gene mutation	Autosomal recessive
Glycogen storage disease type IX			Phosphorylase b kinase
Glycogen storage disease type X			Phosphoglycerate mutase
Glycogen storage disease type XI	Fanconi-Bickel syndrome		Glucose transporter 2
Glycogen storage disease type XII	Aldolase A deficiency		Aldolase A
Glycogen storage disease type XIII			Beta-enolase
Glycogen storage disease type XIV			Phosphoglucomutase type 2
Glycogen storage disease type 0	Lewis' disease		Hepatic glycogen synthase