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"
Copyright © 2011 Elsevier Inc. All rights reserved.
Publication types
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Clinical Trial
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Research Support, N.I.H., Extramural
MeSH terms
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Alaska
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American Indian or Alaska Native
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Body Mass Index
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Carnitine / analogs & derivatives
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Carnitine / biosynthesis
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Carnitine O-Palmitoyltransferase / deficiency
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Carnitine O-Palmitoyltransferase / genetics*
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Child, Preschool
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Fatty Acids, Nonesterified / blood
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Gas Chromatography-Mass Spectrometry
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Homozygote
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Humans
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Hypoglycemia / complications
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Hypoglycemia / etiology*
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Hypoglycemia / genetics
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Ketones / metabolism
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Lipid Metabolism, Inborn Errors / complications*
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Lipid Metabolism, Inborn Errors / genetics*
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Polymorphism, Single Nucleotide / genetics
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Tandem Mass Spectrometry
Substances
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Fatty Acids, Nonesterified
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Ketones
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acylcarnitine
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Carnitine O-Palmitoyltransferase
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Carnitine
Supplementary concepts
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Carnitine palmitoyl transferase 1A deficiency
Associated data
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ClinicalTrials.gov/NCT00653666