Glycogen storage disease

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Glycogen storage disease Classification and external resources
Glycogen
ICD-10	E74.0
ICD-9	271.0
MeSH	D006008

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.

[edit] 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 syndrome
GSD type 0	glycogen synthase	-

v • d • e Inborn error of carbohydrate metabolism (including glycogen storage diseases) (E73-74, 271) Disaccharide catabolism Lactose intolerance - Sucrose intolerance Monosaccharide catabolism fructose: Essential fructosuria - Fructose intolerance galactose/galactosemia : Galactokinase deficiency - Galactose-1-phosphate uridylyltransferase galactosemia - Galactose epimerase deficiency Monosaccharide transport Glucose-galactose malabsorption - Inborn errors of renal tubular transport (Renal glycosuria) Glycolysis GSD type VII, Tarui's, phosphofructokinase - Triosephosphate isomerase deficiency - Pyruvate kinase deficiency Pyruvate catabolism PDHA - Fumarase deficiency Gluconeogenesis PCD - Fructose bisphosphatase deficiency - GSD type I, von Gierke, glucose 6-phosphatase Glycogenesis GSD type 0, glycogen synthase - GSD type IV, Andersen's, branching Glycogenolysis GSD type II, Pompe's, glucosidase - GSD type III, Cori's, debranching - GSD type V, McArdle, glycogen phosphorylase/GSD type VI, Hers', glycogen phosphorylase - GSD type I, von Gierke, glucose 6-phosphatas Pentose phosphate pathway Glucose-6-phosphate dehydrogenase deficiency - Pentosuria Other Hyperoxaluria see also glycolysis enzymes, pentose phosphate pathway enzymes, fructose and galactose metabolism enzymes