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Biotinidase deficiency: A novel vitamin recycling defect
Author(s) -
Wolf B.,
Grier R. E.,
Secor McVoy J. R.,
Heard G. S.
Publication year - 1985
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800660
Subject(s) - biotinidase deficiency , biotin , pyruvate carboxylase , endocrinology , enzyme , biology , biochemistry , chemistry , medicine
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.