Article
Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.
Molecular genetics and metabolism - 1 Nov 2011
Gillingham Melanie B, Hirschfeld Matthew, Lowe Sarah, Matern Dietrich, Shoemaker James, Lambert William E, Koeller David M
Abstract excerpt
A high prevalence of the sequence variant c.1436C→T in the CPT1A gene has been identified among Alaska Native newborns but the clinical implications of this variant are unknown. We conducted medically supervised fasts in 5 children homozygous for the c.1436C→T variant. Plasma free fatty acids increased normally in these children but their long-chain acylcarnitine and ketone production was significantly blunted....
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