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生物素酶缺乏症研究进展

Zhang Haozheng,Wang Guangxin

Chinese Journal of Applied Clinical Pediatrics（2016）

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Abstract
生物素酶缺乏症是由于生物素酶基因突变导致生物素酶活性下降而引起的一种常染色体隐性遗传病,多于婴幼儿期起病.近年来,随着遗传代谢病筛查技术水平的提高,生物素酶缺乏症不断被诊断.国外报道该病的发病率约为1∶60 000,其临床表现复杂,未经应用生物素治疗的患儿病死率、致残率极高.现对生物素酶缺乏症的发病机制、临床表现、诊断和治疗等方面的研究进展进行综述.
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Key words
Biotinidase deficiency,Biotinidase gene,Clinical manifestation,Treatment
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