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    Am J Hum Genet. 1985 Mar;37(2):326-37.

    Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.

    Burri BJ, Sweetman L, Nyhan WL.

    Abstract

    Holocarboxylase synthetase activity has been determined in fibroblasts of seven patients with the neonatal form of biotin-responsive multiple carboxylase deficiency. The normal Km for biotin was 15 +/- 3 nmol/l, while in the patients the values ranged from 48 to 1,062 nmol/l. The mean maximum velocity was 27% of normal. Differences among the values obtained for the Km for biotin and the heat stability of holocarboxylase synthetase suggested that the patients studied represented at least four distinct variants at the holocarboxylase synthetase locus.

    PMID:
    3920902
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC1684574
    Free PMC Article

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