Hypoglycemia, hypotonia, and cardiomyopathy: The evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency

W. R. Treem, C. A. Stanley, Daniel Hale, H. B. Leopold, J. S. Hyams

Research output: Contribution to journalArticle

36 Scopus citations

Abstract

Inherited defects in fatty acid oxidation, which have been described and diagnosed with increasing frequency in the last decade, are most commonly attributed to a deficiency in the activity of medium-chain acyl-CoA dehydrogenase. Few cases of the related enzyme defect of long-chain acyl-CoA dehydrogenase activity have been reported. An infant with documented long-chain acyl-CoA dehydrogenase deficiency is described with a detailed metabolic profile, long-term clinical follow-up, and response to treatment. This patient is compared with the seven previously published cases of this disorder in order to stress the unique features of the initial presentation, more subtle late manifestations of the disease, and clinical and biochemical differentiation from the more common medium-chain acyl-CoA dehydrogenase deficiency. This report stresses the enlarging spectrum of the clinical presentation and natural history of this defect in fatty acid oxidation.

Original languageEnglish (US)
Pages (from-to)328-333
Number of pages6
JournalPediatrics
Volume87
Issue number3
StatePublished - 1991

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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