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".
- Carnitine palmitoyltransferase 1A
- Fatty acid oxidation
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Molecular Biology