Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency

J Inherit Metab Dis. 2001 Jun;24(3):417-8. doi: 10.1023/a:1010533408635.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acyl-CoA Dehydrogenases / deficiency*
  • Acyl-CoA Dehydrogenases / genetics
  • Caprylates / blood
  • Carnitine / blood
  • Carnitine / deficiency
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Dicarboxylic Acids / urine
  • Female
  • Glycine / analogs & derivatives*
  • Glycine / urine
  • Heterozygote*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation
  • Neonatal Screening

Substances

  • Caprylates
  • Dicarboxylic Acids
  • N-caproylglycine
  • suberylglycine
  • Acyl-CoA Dehydrogenases
  • octanoic acid
  • Carnitine
  • Glycine