Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant

Melanie B. Gillingham, Matthew Hirschfeld, Sarah Lowe, Dietrich Matern, James Shoemaker, William E. Lambert, David M. Koeller

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

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".

Original languageEnglish (US)
Pages (from-to)261-264
Number of pages4
JournalMolecular genetics and metabolism
Volume104
Issue number3
DOIs
StatePublished - Nov 2011

Keywords

  • Carnitine palmitoyltransferase 1A
  • Fasting
  • Fatty acid oxidation
  • Hypoglycemia
  • Hypoketotoic
  • Ketones

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Fingerprint Dive into the research topics of 'Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant'. Together they form a unique fingerprint.

Cite this