Biotinidase deficiency: A novel vitamin recycling defect

• Barry Wolf, Robert E Grier, +1 author Gregory S Heard
• Published 1985 in Journal of Inherited Metabolic Disease
• DOI:10.1007/BF01800660

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… CONTINUE READING

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