Pediatr Res. 1991 Apr;29(4 Pt 1):406-11.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Jackson S, Bartlett K, Land J, Moxon ER, Pollitt RJ, Leonard JV, Turnbull DM.

Source

Department of Clinical Neuroscience, University of Newcastle upon Tyne, United Kingdom.

Abstract

We describe the clinical features and biochemical findings of two patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Both children presented with an acute metabolic crisis. Both had hypoglycemia and excreted even-chain unsubstituted dicarboxylic and 3-hydroxy-dicarboxylic acids in the urine. Measurement of the enzymes of fatty acid oxidation in cultured skin fibroblasts showed low activity of long-chain 3-hydroxyacyl-CoA dehydrogenase, but normal activity of short-chain 3-hydroxyacyl-CoA dehydrogenase. The defect was further characterized by immunoprecipitating the short-chain enzyme using monospecific antibodies. It is probably inherited as an autosomal recessive trait, inasmuch as intermediate enzyme activity was found in the fibroblasts from the parents of one child.

PMID:: 1830138; [PubMed - indexed for MEDLINE]

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3-Hydroxyacyl CoA Dehydrogenases

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Cited by 13 PubMed Central articles

Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. [J Biol Chem. 2010]
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Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. [J Clin Invest. 2001]
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