Biotinidase deficiency: A novel vitamin recycling defect

@article{Wolf2005BiotinidaseDA,
  title={Biotinidase deficiency: A novel vitamin recycling defect},
  author={B. Wolf and R. Grier and J. S. Secor McVoy and G. S. Heard},
  journal={Journal of Inherited Metabolic Disease},
  year={2005},
  volume={8},
  pages={53-58}
}
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. 
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There appear to be at least two underlying aetiologies for combined carboxylase deficiency; firstly, a failure of biotinylation of apocarboxylases due to a mutation of holocarboxylase synthetase (EC… Expand
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These guidelines were developed to define and standardize laboratory procedures for enzymatic biotinidase testing, to delineate situations for which follow-up molecular testing is warranted, and to characterize variables that can influence test performance and interpretation of results. Expand
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  • B. Wolf
  • Biology, Medicine
  • Molecular genetics and metabolism
  • 2011
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The neurological findings of symptomatic individuals with profound biotinidase deficiency have been compiled to catalog the characteristic features of the disorder and the consequences of biotin treatment on these findings. Expand
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The clinical features and the molecular investigation of biotinidase deficiency in four unrelated consanguineous Algerian families including five patients with profound biotinIDase deficiency and one child characterized as partial biotinidsase deficiency are reported. Expand
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  • Medicine
  • Genetics in Medicine
  • 2012
TLDR
The biotinidase gene (BTD) has been cloned and sequenced; its genomic organization has been determined and more than 150 mutations have been identified. Expand
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TLDR
It is suggested that at least all patients with residual activities below 10% should be treated with biotin, because of discrete biochemical abnormalities found in a patient with residual biotinidase activity of 8. Expand
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TLDR
Biotin deficiency may be caused by insufficient dietary uptake of biotin, drug–vitamin interactions and, perhaps, by increased biotin catabolism during pregnancy and in smokers. Expand
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
TLDR
A transgenic biotinidase-deficient mouse is developed that can be used to study systematically many aspects of the disorder and the role of biotinIDase, biotin and biocytin in normal and in enzyme-deficiency states. Expand
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