Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder

Eur J Pediatr. 1994 Oct;153(10):745-50. doi: 10.1007/BF01954492.

Abstract

3-Hydroxyacyl-CoA dehydrogenase deficiency is a newly recognised fatty acid oxidation disorder with a usually fatal outcome. We present a further patient who presented with hypoketotic hypoglycaemia, hepatopathy, secondary carnitine deficiency and increased plasma long-chain acylcarnitines. 3-Hydroxydicarboxylic aciduria was present and the diagnosis confirmed in cultured skin fibroblasts. Our patient is compared with those reported in the literature with respect to clinical symptoms, differential diagnosis and possible therapeutic regimens.

Publication types

  • Case Reports
  • Review

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / deficiency*
  • Cardiomyopathies / enzymology*
  • Cardiomyopathies / etiology
  • Carnitine / deficiency
  • Clinical Enzyme Tests / methods
  • Fatal Outcome
  • Humans
  • Hypoglycemia / etiology
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors* / complications
  • Lipid Metabolism, Inborn Errors* / diagnosis
  • Lipid Metabolism, Inborn Errors* / physiopathology
  • Liver Diseases / enzymology
  • Male
  • Mitochondrial Myopathies* / diagnosis
  • Mitochondrial Myopathies* / physiopathology

Substances

  • 3-Hydroxyacyl CoA Dehydrogenases
  • Carnitine