Journal of Inherited Metabolic Disease

, Volume 8, Supplement 1, pp 53–58

Biotinidase deficiency: A novel vitamin recycling defect

  • B. Wolf
  • R. E. Grier
  • J. R. Secor McVoy
  • G. S. Heard
Section III: Biotin

Abstract

The recent finding that biotinidase deficiency is the primary biochemical defect in late-onset multiple carboxylase deficiency has 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 of biotinidase, and the possible role of the enzyme as a binding or carrier protein for biotin.

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Copyright information

© SSIEM and MTP Press Limited 1985

Authors and Affiliations

  • B. Wolf
    • 1
  • R. E. Grier
    • 1
  • J. R. Secor McVoy
    • 1
  • G. S. Heard
    • 1
  1. 1.Departments of Human Genetics and PediatricsMedical College of VirginiaRichmondUSA

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