Glycogen storage disease type III in Inuit children

Paul James A. Zimakas; Celia J. Rodd

doi:10.1503/cmaj.1031589

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Glycogen Storage Disease Type 3
Lesley A Turner

Posted on: 27 June 2005

Posted on: (27 June 2005)
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Glycogen Storage Disease Type 3
Lesley A Turner
Re: Article “Glycogen Storage Disease Type 3 in Inuit Children” by authors PJA Zimakas and CJ Rodd, page 355, CMAJ, February 1, 2005, volume 172, no 3.
Dear Sir or Madam: We read with interest the above-named article outlining the unexpectedly high incidence of Gly-cogen Storage Type 3 (GSD III) in Inuit children from Northern Quebec and the Baffin region of eastern Nunavut. Four cases were presented. Previo...
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Re: Article “Glycogen Storage Disease Type 3 in Inuit Children” by authors PJA Zimakas and CJ Rodd, page 355, CMAJ, February 1, 2005, volume 172, no 3.
Dear Sir or Madam: We read with interest the above-named article outlining the unexpectedly high incidence of Gly-cogen Storage Type 3 (GSD III) in Inuit children from Northern Quebec and the Baffin region of eastern Nunavut. Four cases were presented. Previously described incidence has been 1 in 100,000 live births in North America. We are currently following a case of GSD IIIa in the endocrinology and genetics clinics at Memorial University of Newfoundland. This patient is currently aged 32. GSD was diagnosed at the age of 11 months. At that time the patient presented with hypotonia, hepatomegaly, and hypoglycemia. Enzyme analysis done on liver tissue several years ago confirmed absence of the glycogen debranching enzyme activity. Presently the patient has ongoing symptoms of hypoglycemia, proximal muscle weakness, and osteoporosis with a history of multiple fractures. His myopathy developed in his late 20’s. He has chronically elevated CPK levels in the 3000-4000 U/L range. Echocardiogram has revealed left ventricular hy-pertrophy.
This patient lives in Nain in Northern Labrador. There have been no previous reports of GSD IIIa in Labrador Inuit population. Labrador Inuit population according to the 2001 census numbered 4,555. Thus the total of 5 cases of GSD IIIa represents a total incidence of 1 in 5000 in the Canadian Inuit population.
Our case of GSD IIIa supports your statement that it is important for health care providers caring for this population to consider and recognize this rare but serious disease.
Sincerely,
Vikram. Chandurkar, MD, FRCPC, Division of Endocrinology, Memorial University of Newfoundland
Lesley Ann Turner, MD, FRCPC, Division of Medical Genetics Memorial University of Newfoundland
References: 1.CMAJ, Vol 172, No 3, page 355, Zimakas, PJA, Rodd, CJ. 2.Statistics Canada 2001, Aboriginal population profile. Ottawa Census Division, Statistics Canada, 2001.
Conflict of Interest:
None declared
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Competing Interests: None declared.