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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  • Molecular genetics and metabolism
  • 2011
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  • Medicine
  • Genetics in Medicine
  • 2012
TLDR
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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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References

SHOWING 1-10 OF 56 REFERENCES
Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin.
TLDR
The findings indicate that the primary enzyme defect in late-onset multiple carboxylase deficiency is in biotinidase activity and that the disorder is inherited as an autosomal recessive trait. Expand
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
TLDR
The findings indicate that the primary biochemical defect in late-onset multiple carboxylase deficiency is in biotinidase activity which is inherited as an autosomal recessive trait. Expand
Two forms of biotin-responsive multiple carboxylase deficiency
  • L. Sweetman
  • Biology, Medicine
  • Journal of Inherited Metabolic Disease
  • 2005
TLDR
It is proposed that holocarboxylase synthetase and intestinal biotin absorption are defective in the early and late forms respectively. Expand
Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency.
THE syndrome of biotin-responsive multiple carboxylase deficiency has two relatively distinct phenotypes: a neonatal form, with the onset of life-threatening lactic acidosis, seizures, andExpand
Phenotypic variation in biotinidase deficiency.
TLDR
It is suggested that biotinidase deficiency should be considered in any infant or child with any of these neurologic or cutaneous findings, with or without ketoacidosis or organic aciduria, and if the diagnosis cannot be excluded, such individuals should be given a therapeutic trial of pharmacologic doses of biotin. Expand
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
TLDR
Results show that the primary defect in this patient is a mutation affecting holocarboxylase synthetase activity, and thus a genetic defect of the metabolism of biotin. Expand
[Multiple biotin-dependent carboxylase deficiencies (author's transl)].
TLDR
It is suggested that MCD could be of two types: impaired biotin metabolism (absorption, transport, activation) might result in generalization MCD involving ACC and defective holocarboxylase synthetase might lead to a pure mitochondrial MCD with fibroblastic deficiency and presumably skin integrity. Expand
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency
TLDR
It is suggested that the PGE deficiency in MCD could result from an impaired activity of a biotin enzyme, acetyl CoA carboxylase, since the product of this enzyme reaction, malonyl CoA, is required for prostaglandin synthesis. Expand
PANCREATIC BIOTINIDASE ACTIVITY: THE POTENTIAL FOR INTESTINAL PROCESSING OF DIETARY PROTEIN-BOUND BIOTIN
TLDR
It is shown that biotinidase activity in rats is not enriched in intestinal brush border membranes but it is present in mucosa from all sections of the small intestine, and it is also in pancreatic homogenates, suggesting that biotinyl-peptides has an important role in increasing the bioavailability of dietary biotin. Expand
Fatty Acids in Biotin Deficiency
The biotin-dependent enzyme acetyl-CoA carboxylase (ACC) catalyzes the ratelimiting step in fatty acid biosynthesis. Cutaneous features similar to those in biotin deficiency are seen in essentialExpand
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