Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology

J Inherit Metab Dis. 1995;18(5):643-5. doi: 10.1007/BF02436014.
No abstract available

Publication types

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

MeSH terms

  • Carbon-Carbon Ligases*
  • Carnitine / blood
  • Carnitine / therapeutic use
  • Child
  • Child, Preschool
  • Dietary Proteins / administration & dosage
  • Female
  • Gas Chromatography-Mass Spectrometry
  • Glycine / analogs & derivatives
  • Glycine / urine
  • Humans
  • Infant
  • Ligases / deficiency*
  • Male
  • Valerates / urine

Substances

  • Dietary Proteins
  • Valerates
  • beta-methylcrotonylglycine
  • beta-hydroxyisovaleric acid
  • Ligases
  • Carbon-Carbon Ligases
  • methylcrotonoyl-CoA carboxylase
  • Carnitine
  • Glycine