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	Named for
GSD type I	glucose-6-phosphatase	von Gierke's disease	Edgar von Gierke
GSD type II	acid maltase	Pompe's disease	Johann Pompe
GSD type III	glycogen debrancher	Cori's disease or Forbe's disease	Carl Cori and Gerty Cori
GSD type IV	glycogen branching enzyme	Andersen disease	Dorothy Hansine Andersen
GSD type V	muscle glycogen phosphorylase	McArdle disease	Brian McArdle
GSD type VI	liver glycogen phosphorylase	Hers' disease	Henri G. Hers
GSD type VII	muscle phosphofructokinase	Tarui's disease	Seiichiro Tarui
GSD type VIII	(In the past, considered a distinct condition. Now classified with VI. Has been described as X-linked recessive.)
GSD type IX	phosphorylase kinase, PHKA2	-	-
GSD type X	(In the past, considered a distinct condition. Now classified with VI.)
GSD type XI	glucose transporter, GLUT2	Fanconi-Bickel syndrome	Guido Fanconi and Horst Bickel
GSD type 0	glycogen synthase	-	-

References