生物素反应性多种羧化酶缺乏症患者中全羧化酶合成酶的异质性
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
作者信息
Burri B J, Sweetman L, Nyhan W L
出版信息
Am J Hum Genet. 1985 Mar;37(2):326-37.
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.
摘要
已测定了7例患有新生儿型生物素反应性多种羧化酶缺乏症患者成纤维细胞中的全羧化酶合成酶活性。生物素的正常米氏常数（Km）为15±3nmol/L，而患者的值在48至1062nmol/L之间。平均最大反应速度为正常的27%。生物素Km值和全羧化酶合成酶热稳定性所获得的值之间的差异表明，所研究的患者在全羧化酶合成酶基因座上至少代表四种不同的变异型。
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