Biotinidase deficiency: a novel vitamin recycling defect

J Inherit Metab Dis. 1985;8 Suppl 1:53-8. doi: 10.1007/BF01800660.


The recent finding that biotinidase deficiency is the primary biochemical defect in late-onset multiple carboxylase deficiency was stimulated new interest in the inherited disorders of biotin-dependent carboxylases. The clinical and biochemical features of biotinidase deficiency are discussed. We also speculate about two exciting areas currently being investigated: the localization of action biotinidase, and the possible role of the enzyme as a binding or carrier protein for biotin.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adult
  • Amidohydrolases / blood
  • Amidohydrolases / deficiency*
  • Amidohydrolases / physiology
  • Biotin / metabolism*
  • Biotinidase
  • Carrier Proteins / physiology
  • Female
  • Humans
  • Infant, Newborn
  • Pregnancy
  • Prenatal Diagnosis


  • Carrier Proteins
  • biotin-binding proteins
  • Biotin
  • Amidohydrolases
  • Biotinidase