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 language | English (US) |
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Pages (from-to) | 261-264 |
Number of pages | 4 |
Journal | Molecular genetics and metabolism |
Volume | 104 |
Issue number | 3 |
DOIs | |
State | Published - 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