Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.
Mol Genet Metab
; 104(3): 261-4, 2011 Nov.
Article
em En
| MEDLINE
| ID: mdl-21763168
ABSTRACT
A high prevalence of the sequence variant c.1436CâT 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.1436CâT 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.1436CâT 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"
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Carnitina O-Palmitoiltransferase
/
Hipoglicemia
/
Erros Inatos do Metabolismo Lipídico
Tipo de estudo:
Risk_factors_studies
Limite:
Child, preschool
/
Humans
País/Região como assunto:
America do norte
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article