Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation

Arch Dis Child Fetal Neonatal Ed. 1995 Sep;73(2):F103-5. doi: 10.1136/fn.73.2.f103.

Abstract

Very long chain acyl-CoA dehydrogenase is a newly characterised enzyme in mitochondrial fatty acid oxidation. A girl who presented on the second day of life with a sudden and severe illness due to deficiency of this enzyme is reported. There is evidence that some children (and perhaps all) originally diagnosed with a deficiency of long-chain acyl-CoA dehydrogenase, in fact, have a defect involving very long chain acyl-CoA dehydrogenase.

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
  • Carnitine / therapeutic use
  • Diet, Fat-Restricted*
  • Female
  • Humans
  • Infant, Newborn
  • Mitochondria / enzymology
  • Mitochondrial Myopathies / enzymology*
  • Mitochondrial Myopathies / therapy

Substances

  • Acyl-CoA Dehydrogenase, Long-Chain
  • Carnitine