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

DOI: 10.1007/BF01800660

Cite this article as:
Wolf, B., Grier, R.E., Secor McVoy, J.R. et al. J Inherit Metab Dis (1985) 8: 53. doi:10.1007/BF01800660

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.

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