Biotinidase deficiency: A novel vitamin recycling defect

@article{Wolf2005BiotinidaseDA,
  title={Biotinidase deficiency: A novel vitamin recycling defect},
  author={B. Wolf and R. E. Grier and J. S. Secor McVoy and G. S. Heard},
  journal={Journal of Inherited Metabolic Disease},
  year={2005},
  volume={8},
  pages={53-58}
}
  • B. Wolf, R. E. Grier, +1 author G. S. Heard
  • Published 2005
  • Biology, Medicine
  • Journal of Inherited Metabolic Disease
  • 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. 
    68 Citations

    Topics from this paper.

    Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates
    • 26
    Enzyme studies in biotin-responsive disorders
    • 10
    Biotinidase deficiency and our champagne legacy.
    • 6
    The neurology of biotinidase deficiency.
    • B. Wolf
    • Biology, Medicine
    • Molecular genetics and metabolism
    • 2011
    • 82
    Biotinidase deficiency: novel mutations in Algerian patients.
    • 4
    Biotin and biotinidase deficiency
    • 107

    References

    SHOWING 1-10 OF 54 REFERENCES
    Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
    • 279
    • PDF
    Two forms of biotin-responsive multiple carboxylase deficiency
    • L. Sweetman
    • Biology, Medicine
    • Journal of Inherited Metabolic Disease
    • 2005
    • 51
    Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency.
    • 38
    Phenotypic variation in biotinidase deficiency.
    • 176
    Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
    • 117
    Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency
    • 36
    A screening method for biotinidase deficiency in newborns.
    • 117
    • PDF