A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition

J Pediatr. 1992 Dec;121(6):965-8. doi: 10.1016/s0022-3476(05)80353-1.

Abstract

A term neonate became lethargic and hypotonic at 46 hours of age and died 10 hours later despite supportive therapy. Urinary organic acids indicated medium-chain acyl-coenzyme A dehydrogenase deficiency, and DNA studies confirmed this disorder. Neonatal symptoms in this enzyme deficiency have rarely been reported, and recent reviews have ignored or discounted this presentation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Acyl-CoA Dehydrogenase
  • DNA / genetics*
  • Fatty Acid Desaturases / analysis
  • Fatty Acid Desaturases / deficiency*
  • Fatty Acid Desaturases / genetics
  • Fatty Acids / urine
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors / genetics
  • Lipid Metabolism, Inborn Errors / metabolism*
  • Lipid Metabolism, Inborn Errors / pathology
  • Male
  • Mutation
  • Polymerase Chain Reaction
  • Spectrometry, Mass, Fast Atom Bombardment

Substances

  • Fatty Acids
  • DNA
  • Fatty Acid Desaturases
  • Acyl-CoA Dehydrogenase