RT Journal Article
SR Electronic
T1 Glycogen storage disease type III in Inuit children
JF Canadian Medical Association Journal
JO CMAJ
FD Canadian Medical Association
SP 355
OP 358
DO 10.1503/cmaj.1031589
VO 172
IS 3
A1 Paul James A. Zimakas
A1 Celia J. Rodd
YR 2005
UL http://www.cmaj.ca/content/172/3/355.abstract
AB 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.