Unusual Metabolites in a Patient with Isovaleric Acidemia

Clin Chem. 2019 Apr;65(4):595-597. doi: 10.1373/clinchem.2018.300558.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / metabolism*
  • Female
  • Fumarates / urine
  • Humans
  • Infant, Newborn
  • Isovaleryl-CoA Dehydrogenase / deficiency*
  • Isovaleryl-CoA Dehydrogenase / metabolism
  • Maleates / urine
  • Succinates / urine
  • Valerates / urine

Substances

  • Fumarates
  • Maleates
  • Succinates
  • Valerates
  • citraconic acid
  • beta-hydroxyisovaleric acid
  • Isovaleryl-CoA Dehydrogenase
  • methylsuccinic acid

Supplementary concepts

  • Acidemia, isovaleric