Biotinidase deficiency: A novel vitamin recycling defect

@article{Wolf2005BiotinidaseDA,
  title={Biotinidase deficiency: A novel vitamin recycling defect},
  author={Barry Wolf and Robert E. Grier and Julie R Secor McVoy and Gregory 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…

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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.

The neurology of biotinidase deficiency.

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  • 2011

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Impaired Biotinidase Activity Disrupts Holocarboxylase Synthetase Expression in Late Onset Multiple Carboxylase Deficiency*

TLDR
It is proposed that biotinidase-deficient patients may develop a secondary HCS deficiency disrupting the altruistic tissue-specific biotin allocation mechanism that protects brain metabolism during biotin starvation.

Comparison of patients with complete and partial biotinidase deficiency: Biochemical studies

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.

Biotin and biotinidase deficiency

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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.

Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.

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