Glycogen storage disease type IV

Infobox_Disease
Name = Glycogen storage disease type IV

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Caption = Glycogen
DiseasesDB = 5303
ICD10 = ICD10|E|74|0|e|70
ICD9 = ICD9|271.0
ICDO =
OMIM = 232500
MedlinePlus =
eMedicineSubj = med
eMedicineTopic = 910
eMedicine_mult = eMedicine2|ped|97
MeshID = D006011

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

ynonyms

It is also known as:-
*Glycogenosis type IV,
*Glycogen Branching Enzyme Deficiency (GBED),
*polyglucosan body disease.
*Amylopectinosis

Eponym

The eponym "Andersen's disease" is sometimes used, for Dorothy Hansine Andersen. [WhoNamedIt|synd|78] [D. H. Andersen. Familial cirrhosis of the liver with storage of abnormal glycogen. Laboratory Investigation, Baltimore, 1956, 5: 11-20.] cite journal |author=Andersen DH |title=Familial cirrhosis of the liver with storage of abnormal glycogen |journal=Lab. Invest. |volume=5 |issue=1 |pages=11–20 |year=1956 |pmid=13279125 |doi= |url=]

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

References

External links

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