Impaired fasting tolerance among Alaska Native Children with a common Carnitine Palmitoyltransferase 1A sequence variant
作者： Melanie B. Gillingham , Matthew Hirschfeld , Sarah Lowe , Dietrich Matern , James Shoemaker
DOI: 10.1016/J.YMGME.2011.06.017
关键词: Hypoglycemia 、 Ketogenesis 、 Endocrinology 、 MCADD 、 Hypoketotic hypoglycemia 、 Carnitine 、 Medium-Chain Acyl-CoA Dehydrogenase Deficiency 、 Biology 、 Sequence (medicine) 、 Internal medicine 、 Carnitine O-palmitoyltransferase
摘要: A high prevalence of the sequence variant c.1436C→T in CPT1A gene has been identified among Alaska Native newborns but clinical implications this are unknown. We conducted medically supervised fasts 5 children homozygous for variant. Plasma free fatty acids increased normally these their long-chain acylcarnitine and ketone production was significantly blunted. The fast terminated early two subjects due to symptoms hypoglycemia. Homozygosity impairs fasting ketogenesis, can cause hypoketotic hypoglycemia young children. Trial registration www.clinical trials.gov NCT00653666 "Metabolic Consequences Deficiency"
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