PT  - JOURNAL ARTICLE
AU  - Paul James A. Zimakas
AU  - Celia J. Rodd
TI  - Glycogen storage disease type III in Inuit children
AID  - 10.1503/cmaj.1031589
DP  - 2005 Feb 01
TA  - Canadian Medical Association Journal
PG  - 355--358
VI  - 172
IP  - 3
4099  - http://www.cmaj.ca/content/172/3/355.short
4100  - http://www.cmaj.ca/content/172/3/355.full
SO  - CMAJ2005 Feb 01; 172
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.