Biotinidase deficiency: A novel vitamin recycling defect

B. Wolf*, R. E. Grier, J. R. Secor McVoy, G. S. Heard

*Corresponding author for this work

Research output: Contribution to journalArticle

121 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)53-58
Number of pages6
JournalJournal of Inherited Metabolic Disease
Volume8
Issue number1 Supplement
DOIs
StatePublished - Mar 1 1985

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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