Biotinidase deficiency: a novel vitamin recycling defect.
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.
D000328:Adult; D000581:Amidohydrolases / Q000097:blood / Q000172:deficiency* / Q000502:physiology; D001710:Biotin / Q000378:metabolism*; D043523:Biotinidase; D002352:Carrier Proteins / Q000502:physiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis
D002352:Carrier Proteins; C017071:biotin-binding proteins; D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase