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Glycogen storage disease type IV



Glycogen storage disease type IV
Classification & external resources
Glycogen
ICD-10 E74.0
ICD-9 271.0
OMIM 232500
DiseasesDB 5303
eMedicine med/910  ped/97
MeSH C16.320.565.202.449.540

Glycogen storage disease type IV is a very rare hereditary metabolic disorder. It is also known as:-

  • Glycogenosis type IV,
  • Andersen's disease,
  • Glycogen Branching Enzyme Deficiency (GBED),
  • polyglucosan body disease.
  • Amylopectinosis

Additional recommended knowledge

Human pathology

It is a result of the absence of the glycogen branching enzyme amylo-1,4-1,6 transglucosidase, which is critical in the production of glycogen. This leads to very long unbranched glucose chains being stored in glycogen. The long unbranched molecules (known as amylopectin) have a low solubility which leads to glycogen precipitation in the liver. These deposits subsequently build up in the body tissue, especially the heart and liver. The end result is liver failure and eventual death occurring in the first year of life.

Horse pathology

See main article: Glycogen branching enzyme deficiency

 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Glycogen_storage_disease_type_IV". A list of authors is available in Wikipedia.
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