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Enzyme studies in biotin-responsive disorders

  • Section III: Biotin
  • Published:
Journal of Inherited Metabolic Disease

Abstract

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 6.3.4.10) which results in an enzyme with a highK m with respect to biotin and secondly, a failure of biotinylation due to a lowered availability of biotin due to biotinidase deficiency (EC 3.5.1.12). In both these disorders secondary defects of all four biotin-dependent carboxylases result which in turn causes the excretion of the metabolites characteristic of the isolated carboxylase deficiencies. In addition, both disorders respond biochemically and clinically to the administration of large amounts of biotin.

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Authors and Affiliations

  1. Departments of Child Health and Clinical Biochemistry, Medical School, University of Newcastle-upon-Tyne, NE2 4HH, Newcastle-upon-Tyne, UK

    K. Bartlett, H. K. Ghneim, H. -J. Stirk & H. Wastell

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  1. K. Bartlett
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  2. H. K. Ghneim
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  3. H. -J. Stirk
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  4. H. Wastell
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Bartlett, K., Ghneim, H.K., Stirk, H.J. et al. Enzyme studies in biotin-responsive disorders. J Inherit Metab Dis 8 (Suppl 1), 46–52 (1985). https://doi.org/10.1007/BF01800659

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