BIOTINIDASE DEFICIENCY - A NOVEL VITAMIN RECYCLING DEFECT
BIOTINIDASE DEFICIENCY - A NOVEL VITAMIN RECYCLING DEFECT
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DOI：
10.1007/bf01800660
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发表时间：
1985-01-01
影响因子：
4.2
通讯作者：
HEARD, GS
中科院分区：
文献类型：
--
作者：
WOLF, B;GRIER, RE;HEARD, GS
最近发现生物素酶缺乏是迟发性多种羧化酶缺乏症的主要生化缺陷，这激发了人们对生物素依赖性羧化酶遗传性疾病的新兴趣。讨论了生物素酶缺乏症的临床和生化特征。我们还推测目前正在研究的两个令人兴奋的领域：生物素酶的作用定位，以及该酶作为生物素的结合蛋白或载体蛋白的可能作用。
The recent finding that biotinidase deficiency is the primary biochemical defect in late-onset multiple carboxylase deficiency has stimulated new interest in the inherited disorders of biotin-dependent carboxylases. The clinical and biochemical features of biotinidase deficiency are discussed. We also speculate about two exciting areas currently being investigated: the localization of action of biotinidase, and the possible role of the enzyme as a binding or carrier protein for biotin.