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