Abstract
Medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare cause of impaired mitochondrial fatty acid oxidation. We present a case report of a patient with hyperinsulinism and homozygosity for a novel mutation causing a kinetic variant of the enzyme. The diagnosis was initially inferred by abnormal newborn screening acylcarnitine analysis with elevated C4-hydroxyacylcarnitine.
Copyright © 2012 Elsevier Inc. All rights reserved.
MeSH terms
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3-Hydroxyacyl CoA Dehydrogenases / deficiency
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3-Hydroxyacyl CoA Dehydrogenases / genetics
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3-Hydroxyacyl CoA Dehydrogenases / metabolism
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Carnitine / analogs & derivatives
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Carnitine / metabolism
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Child, Preschool
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Genetic Variation
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Humans
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Infant, Newborn
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Metabolism, Inborn Errors / diagnosis*
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Metabolism, Inborn Errors / genetics
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Metabolism, Inborn Errors / metabolism*
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Molecular Sequence Data
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Mutation
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Neonatal Screening
Substances
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acylcarnitine
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3-Hydroxyacyl CoA Dehydrogenases
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Carnitine
Supplementary concepts
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3-Hydroxyacyl-CoA Dehydrogenase Deficiency