Glycogen storage disease type VI
- Glycogen storage disease type VI
Infobox_Disease
Name = PAGENAME
Caption = Glycogen
DiseasesDB = 5311
ICD10 = ICD10|E|74|0|e|70
ICD9 = ICD9|271.0
ICDO =
OMIM = 232700
MedlinePlus =
eMedicineSubj = med
eMedicineTopic = 912
eMedicine_mult = eMedicine2|ped|2564 | MeshID = D006013
Glycogen storage disease type VI is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase.
It is also known as "Hers' disease", after Henri G. Hers, who characterized it in 1959. [WhoNamedIt|synd|2506] [cite journal |author=HERS HG |title= [Enzymatic studies of hepatic fragments; application to the classification of glycogenoses.] |language=French |journal=Rev Int Hepatol |volume=9 |issue=1 |pages=35–55 |year=1959 |pmid=13646331 |doi= |url=] ]Presentation
Patients generally have a benign course, and typically present with hepatomegaly[cite journal |author=Newgard CB, Fletterick RJ, Anderson LA, Lebo RV |title=The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14 |journal=Am. J. Hum. Genet. |volume=40 |issue=4 |pages=351–64 |year=1987 |month=April |pmid=2883891 |pmc=1684093 |doi= |url=] and growth retardation early in childhood. Mild hypoglycemia, hyperlipidemia, and hyperketosis may occur. Lactic acid and uric acid levels are normal.]References
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