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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 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.
AuthorsB Wolf, R E Grier, J R Secor McVoy, G S Heard
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 8 Suppl 1 Pg. 53-8 ( 1985) ISSN: 0141-8955 [Print] United States
PMID3930841 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S., Review)
Chemical References
  • Carrier Proteins
  • biotin-binding proteins
  • Biotin
  • Amidohydrolases
  • Biotinidase
Topics
  • Adult
  • Amidohydrolases (blood, deficiency, physiology)
  • Biotin (metabolism)
  • Biotinidase
  • Carrier Proteins (physiology)
  • Female
  • Humans
  • Infant, Newborn
  • Pregnancy
  • Prenatal Diagnosis

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