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  • Title: Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.
    Author: Gillingham MB, Hirschfeld M, Lowe S, Matern D, Shoemaker J, Lambert WE, Koeller DM.
    Journal: Mol Genet Metab; 2011 Nov; 104(3):261-4. PubMed ID: 21763168.
    Abstract:
    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. The fast was terminated early in two subjects due to symptoms of hypoglycemia. Homozygosity for the c.1436C→T sequence variant of CPT1A impairs fasting ketogenesis, and can cause hypoketotic hypoglycemia in young children. Trial registration www.clinical trials.gov NCT00653666 "Metabolic Consequences of CPT1A Deficiency"
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