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Glycogen storage disease

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Glycogen storage disease
ICD-10 E740
ICD-9 271.0
OMIM {{{OMIM}}}
DiseasesDB {{{DiseasesDB}}}
MedlinePlus {{{MedlinePlus}}}
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MeSH {{{MeshNumber}}}

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:

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:

Psychological effects of these diseasesEdit



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.



ReferencesEdit


  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 glucidesru:Гликогенозы

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