Biotinidase and its roles in biotin metabolism

Hymes, Jeanne; Wolf, Barry

doi:10.1016/0009-8981(96)06396-6

Cited by 120 publications

(78 citation statements)

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“…The third enzyme of the biotin cycle is biotinidase. It is responsible for releasing biotin from protein-bound biotin by hydrolysis of biocytin (biotinyl-lysine) or short biotinylated peptides generated during digestion or turnover of endogenous carboxylases (10).…”

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confidence: 99%

Paradoxical Regulation of Biotin Utilization in Brain and Liver and Implications for Inherited Multiple Carboxylase Deficiency

Pacheco‐Alvarez

Solorzano–Vargas

Gravel

et al. 2004

Journal of Biological Chemistry

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Holocarboxylase synthetase (HCS) catalyzes the biotinylation of five carboxylases in human cells, and mutations of HCS cause multiple carboxylase deficiency (MCD). Although HCS also participates in the regulation of its own mRNA levels, the relevance of this mechanism to normal metabolism or to the MCD phenotype is not known. In this study, we show that mRNA levels of enzymes involved in biotin utilization, including HCS, are down-regulated during biotin deficiency in liver while remaining constitutively expressed in brain. We propose that this mechanism of regulation is aimed at sparing the essential function of biotin in the brain at the expense of organs such as liver and kidney during biotin deprivation. In MCD, it is possible that some of the manifestations of the disease may be associated with downregulation of biotin utilization in liver because of the impaired activity of HCS and that high dose biotin therapy may in part be important to overcoming the adverse regulatory impact in such organs.

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confidence: 99%

Paradoxical Regulation of Biotin Utilization in Brain and Liver and Implications for Inherited Multiple Carboxylase Deficiency

Pacheco‐Alvarez

Solorzano–Vargas

Gravel

et al. 2004

Journal of Biological Chemistry

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“…3 Biotinidase may also play a role in the biotinylation of specific proteins, such as histones. 4 The diagnosis of biotinidase deficiency is based on demonstrating deficient enzyme activity in serum or plasma. 5 Patients with profound biotinidase deficiency have less than 10% of mean normal serum activity, while patients with the partial biotinidase deficiency variant have 10-30% of mean normal serum activity and are largely asymptomatic.…”

Section: Introductionmentioning

confidence: 99%

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Strovel

Cowan

Scott

et al. 2017

Genetics in Medicine

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Biotinidase deficiency is an autosomal recessively inherited disorder of biotin recycling that is associated with neurologic and cutaneous consequences if untreated. Fortunately, the clinical features of the disorder can be ameliorated or prevented by administering pharmacological doses of the vitamin biotin. Newborn screening and confirmatory diagnosis of biotinidase deficiency encompasses both enzymatic and molecular testing approaches. 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.

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“…9 These antibodies react with normal serum biotinidase that has been desialylated by treatment with neuraminidase. Individuals with profound biotinidase deficiency can be classified into at least nine distinct biochemical phenotypes on the basis of the presence or absence of cross-reacting material (CRM) to biotinidase, the number of isoforms, and the distribution frequency of the isoforms.…”

Section: Biotinyl-hydrolase Activitymentioning

confidence: 99%

Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

Wolf

2012

Genetics in Medicine

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Biotinidase and its roles in biotin metabolism

Cited by 120 publications

References 52 publications

Paradoxical Regulation of Biotin Utilization in Brain and Liver and Implications for Inherited Multiple Carboxylase Deficiency

Paradoxical Regulation of Biotin Utilization in Brain and Liver and Implications for Inherited Multiple Carboxylase Deficiency

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

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