title: Glycogen storage disease type III in Inuit children.
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.
authors.affiliation: Department of Pediatric Endocrinology, Montreal Children's Hospital, McGill University Health Centre, Montréal, Que.
authors.forename: Paul James A
authors.initials: PJ
authors.lastname: Zimakas
authors.forename: Celia J
authors.initials: CJ
authors.lastname: Rodd
mesh_terms: D002648:Child; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000378:metabolism; D006010:Glycogen Storage Disease Type III / Q000150:complications / Q000175:diagnosis / Q000208:ethnology*; D006529:Hepatomegaly / Q000208:ethnology; D006801:Humans; D007003:Hypoglycemia / Q000208:ethnology / Q000209:etiology; D007223:Infant; D004930:Inuit; D008297:Male
chemical_list: D006004:Glycogen Debranching Enzyme System