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. 
    View on Springer
    ncbi.nlm.nih.gov
    68 Citations
    Highly Influencial Citations
    1
    Background Citations
    24

    Topics from this paper.

    Explore Further: Topics Discussed in This Paper

      68 Citations
      Citation Type

      Citation Type

      Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates
      • 26
      Enzyme studies in biotin-responsive disorders
      • 10
      Technical standards and guidelines for the diagnosis of biotinidase deficiency
      • 54
      • PDF
      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
      Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”
      • B. Wolf
      • Medicine
      • Genetics in Medicine
      • 2012
      • 95
      • PDF
      Biotin and biotinidase deficiency
      • 107
      Comparison of patients with complete and partial biotinidase deficiency: Biochemical studies
      • 22
      Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
      • 20

      References

      SHOWING 1-10 OF 54 REFERENCES
      Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
      • 279
      • PDF
      Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin.
      • 62
      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
      PANCREATIC BIOTINIDASE ACTIVITY: THE POTENTIAL FOR INTESTINAL PROCESSING OF DIETARY PROTEIN-BOUND BIOTIN
      • 14
      • PDF
      A screening method for biotinidase deficiency in newborns.
      • 117
      • PDF
      Fatty Acids in Biotin Deficiency
      • 2