TITLE

Glycogen storage disease type III in Inuit children

AUTHOR(S)
Zimakas, Paul James A.; Rodd, Celia J.
PUB. DATE
February 2005
SOURCE
CMAJ: Canadian Medical Association Journal;2/1/2005, Vol. 172 Issue 3, p355
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
GLYCOGEN STORAGE DISEASE TYPE III (GSD III) was diagnosed in 4 Inuit children (3 confirmed, 1 suspected case) at our institution over the last decade. This rare autosomal recessive disease, which results from a deficiency of the debranching enzyme required for complete degradation of the glycogen molecule, has not been previously described in this population. The possible clinical presentations are heterogeneous, as is the spectrum of severity of this disease. The long-term sequelae can be severe, including recurrent hypoglycemia, hepatic cirrhosis and progressive muscle weakness. These 4 cases would suggest an increased prevalence of GSD III in the Inuit population. Therefore, it is important for health care providers caring for this population to consider and recognize this rare but serious disease.
ACCESSION #
15784093

 

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