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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TLDR
Thirteen novel mutations in children with biotinidase deficiency are determined, including the first to be reported that alters the cysteine in the putative location crucial for ester formation and binding of the biotinyl‐moiety in the active site of the enzyme.

Enzyme studies in biotin-responsive disorders

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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TLDR
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.

  • B. Wolf
  • Medicine
    Molecular genetics and metabolism
  • 2011

Biotinidase deficiency: novel mutations in Algerian patients.

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

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.

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

...

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TLDR
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TLDR
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