Glycogen storage disease type IV

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Glycogen storage disease type IV
Classification and external resources
Glycogen.png
ICD-10 E74.0
ICD-9 271.0
OMIM 232500 263570 607839
DiseasesDB 5303
eMedicine med/910 ped/97
MeSH D006011
GeneReviews

Glycogen storage disease type IV is a rare hereditary metabolic disorder.

Synonyms[edit]

It is also known as:-

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

Eponym[edit]

The eponym "Andersen's disease" is sometimes used, for Dorothy Hansine Andersen.[1][2]

Human pathology[edit]

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 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 probable end result is cirrhosis and death within 5 years. In adult polyglucosan body disease the activity of the enzyme is higher and symptoms do not appear until later in life.

Horse pathology[edit]

References[edit]

  1. ^ Andersen's disease (Dorothy Hansine Andersen) at Who Named It?
  2. ^ Andersen DH (1956). "Familial cirrhosis of the liver with storage of abnormal glycogen". Lab. Invest. 5 (1): 11–20. PMID 13279125. 

External links[edit]