Isovaleric acidemia: personal history, clinical survey and study of the molecular basis

Prog Clin Biol Res. 1990:321:273-90.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / blood
  • Carnitine / therapeutic use
  • Cell Line
  • Child, Preschool
  • Female
  • Hemiterpenes
  • Humans
  • Isovaleryl-CoA Dehydrogenase
  • Leucine / therapeutic use
  • Male
  • Oxidoreductases / metabolism*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Pentanoic Acids / blood
  • Pentanoic Acids / metabolism*
  • Prognosis
  • Valerates / metabolism*

Substances

  • Hemiterpenes
  • Pentanoic Acids
  • Valerates
  • isovaleric acid
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • Isovaleryl-CoA Dehydrogenase
  • Leucine
  • Carnitine