Prevalence of carnitine palmitoyltransferase 1A (CPT1A) variant p.P479L and risk of infant mortality in Nunavut, Northwest Territories, and Yukon

• Main Author: Collins, Sorcha Alexia
• Format: Thesis
• Language: English
• Published: University of British Columbia 2011
• Subjects: British Columbia; Canada; Northwest Territories; Nunavut; Yukon; First Nations; inuit; Inuvialuit
• Online Access: http://hdl.handle.net/2429/30525

The p.P479L (c.1436C>T) variant of hepatic CPT1A is frequent in Inuit and British Columbia First Nations populations of Canada. CPT1A is a major regulatory point in long chain fatty acid oxidation in the liver. CPT1A deficiency is an autosomal recessive disorder that causes metabolic decompensati...