Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin

J Inherit Metab Dis. 1984:7 Suppl 2:123-5. doi: 10.1007/978-94-009-5612-4_36.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amidohydrolases / deficiency*
  • Biotin / metabolism*
  • Biotinidase
  • Carbon-Carbon Ligases*
  • Carboxy-Lyases / deficiency*
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Kidney / metabolism*
  • Ligases / deficiency*
  • Male
  • Methylmalonyl-CoA Decarboxylase
  • Pyruvate Carboxylase Deficiency Disease*

Substances

  • Biotin
  • Amidohydrolases
  • Biotinidase
  • Carboxy-Lyases
  • Ligases
  • Carbon-Carbon Ligases
  • methylcrotonoyl-CoA carboxylase
  • Methylmalonyl-CoA Decarboxylase