Biotinidase deficiency: A novel vitamin recycling defect

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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Wolf, B., Grier, R.E., Secor McVoy, J.R. et al. Biotinidase deficiency: A novel vitamin recycling defect. J Inherit Metab Dis 8, 53–58 (1985). https://doi.org/10.1007/BF01800660

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Keywords

  • Public Health
  • Internal Medicine
  • Metabolic Disease
  • Biotin
  • Biochemical Feature