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Glycogen storage disease
ICD-10 E740
ICD-9 271.0
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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.

There are nine diseases that are commonly considered to be glycogen storage diseases:

  • GSD type I: glucose-6-phosphatase deficiency, von Gierke's disease
  • GSD type II: acid maltase deficiency, Pompe's disease
  • GSD type III: glycogen debrancher deficiency, Cori's disease or Forbe's disease
  • GSD type IV: glycogen branching enzyme deficiency, Andersen disease
  • GSD type V: muscle glycogen phosphorylase deficiency, McArdle disease
  • GSD type VI: liver phosphorylase deficiency, Hers's disease
  • GSD type VII: muscle phosphofructokinase deficiency, Tarui's disease
  • GSD type IX: phosphorylase kinase deficiency
  • GSD type XI: glucose transporter deficiency, Fanconi-Bickel disease

Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs because it is another defect of glycogen storage and can cause similar problems:

  • GSD type 0: glycogen synthase deficiency

Psychological effects of these diseases

For a thorough scientific overview of glycogen storage diseases, one can consult chapter 71 of OMMBID[1]. For more online resources and references, see inborn error of metabolism.


  1. Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (2006). The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. - Free summaries of 255 chapters, full text through many universities and organizations. Comments on the OMMBID blog.

de:Glykogenspeicherkrankheit es:Enfermedad del glucógeno fr:Maladie génétique du métabolisme des glucides ru:Гликогенозы