3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case

J Inherit Metab Dis. 1992;15(3):363-6. doi: 10.1007/BF02435977.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Carnitine / therapeutic use
  • Diseases in Twins*
  • Fibroblasts / enzymology
  • Glutarates / urine
  • Humans
  • Hydro-Lyases / deficiency*
  • Infant
  • Leucine / administration & dosage
  • Lymphocytes / enzymology
  • Male
  • Meglutol / analogs & derivatives
  • Meglutol / urine

Substances

  • Glutarates
  • 3-methylglutaric acid
  • 3-methylglutaconic acid
  • Meglutol
  • Hydro-Lyases
  • methylglutaconyl-CoA hydratase
  • Leucine
  • Carnitine