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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	Other features
				Gene mutation	Inheritance	Chromosome	Hypoglycemia	Muscle weakness	Hypotonia	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	+	+	+	+	-	-	Lactic acidosis Hyperlipidemia Hyperuricemia
		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	-	+	+	+	+	+	Elevated LDH Elevated liver aminotransferases Elevated urinary glc4
		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	+	+	-	+	+	+	Ketosis Hyperlipidemia Elevated liver aminotransferases
		GSD type IIIb	Debranching enzyme (deficiency in liver only)		Autosomal recessive
Glycogen storage disease type IV	Andersen's disease		Branching enzyme	GBE1 gene mutation	Autosomal recessive	3p12	+	+	-	+	+	+	-
Glycogen storage disease type V	McArdle disease		Muscle glycogen phosphorylase	PYGM gene mutation	Autosomal recessive	11q13	-	+	-	-	+	-	Myoglobuminuria, may result in renal failure
Glycogen storage disease type VI	Hers' disease	Autosomal	Liver glycogen phosphorylase	PYGL gene mutation	Autosomal recessive	14q22	+/-	+	+/-	+	-	-	Hyperlipidemia Elevated liver aminotransferases
		X-linked			X-linked recessive
Glycogen storage disease type VII	Tauri's disease		Muscle phosphofruktokinase	PFKM gene mutation	Autosomal recessive	12q13	+	+	-	-	+	+	Reticulocytosis Hyperuricemia Myoglobinuria Hemolytic anemia
Glycogen storage disease type IX		GSD type IXa	Phosphorylase b kinase (deficiency in liver only)	PHKA2 gene mutation	X-linked recessive	Xp22	+	-	-	+	-	-	Hyperlipidemia Elevated liver aminotransferases Hyperuricemia Fasting ketosis
		GSD type IXb	Phosphorylase b kinase (deficiency in liver and muscle)	PHKB gene mutation	Autosomal recessive	16q12	+	-	-	+	-	-	Hyperlipidemia Elevated liver aminotransferases
Glycogen storage disease type X			Phosphoglycerate mutase	PGAM2 gene mutation	Autosomal recessive	7p13	-	-	-	-	+	-	Myoglobinuria Gout (tophy) Severe coronary arteriosclerosis
Glycogen storage disease type XI	Lactate dehydrogenase A deficiency		LDH A deficiency	LDHA gene mutation	Autosomal recessive	11p15	-	-	-	-	+	-	Muscle stiffness Lactic acidosis Myoglobinuria Easy fatigue
Glycogen storage disease type XII	Aldolase A deficiency		Aldolase A	ALDOA gene mutation	Autosomal recessive	16p11	-	+	-	+	-	-	Hemolytic anemia Splenomegaly
Glycogen storage disease type XIII			Beta-enolase	ENO3 gene mutation	Autosomal recessive	17p13	-	+	-	-	+	-	-
Glycogen storage disease type XIV			Phosphoglucomutase type 2	PGM1 gene mutation	Autosomal recessive	1p31	+/-	+	-	-	+	-	Elevated liver aminotransferases
Glycogen storage disease type 0	Lewis' disease		Hepatic glycogen synthase	GYS1 gene mutation (muscle) GYS2 gene mutation (liver)	Autosomal recessive	12p12	+	-	-	-	-	-	Fasting hypoglycemia and ketosis Postprandial hyperglycemia and lactic acidosis