The effects of large doses of biotin on leucocyte carboxylases in humans

Stirk, Janet-H.; Alberti, K. G. M. M.; Bartlett, K.

doi:10.1042/bst0110185

Cited by 8 publications

(1 citation statement)

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“…The activities of the four biotin-dependent carboxylases in leukocytes are shown in Table 2 in a typical example. All four enzymes return to normal with biotin treatment, in fact supranormal activities were observed with prolonged biotin treatment, an effect which we and others have observed in normal subjects (Hsai et al, 1977;Bartlett et aL, 1980a;Stirk et al, 1983).…”

Section: Biotinidase Deficiencysupporting

confidence: 71%

Enzyme studies in biotin‐responsive disorders

Bartlett

Ghneim

Stirk

et al. 1985

J of Inher Metab Disea

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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 6.3.4.10) which results in an enzyme with a high Km 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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Section: Biotinidase Deficiencysupporting

confidence: 71%