Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet
Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet
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DOI：
10.1002/ajmg.a.62385
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发表时间：
2021-06-24
影响因子：
2
通讯作者：
Manoli, Irini
中科院分区：
文献类型：
--
作者：
Vernon, Hilary J.;Manoli, Irini
从阿奇博尔德·加罗德爵士最初描述白化病、碱尿症、胱氨酸尿症和戊糖尿症四联症到今天，致力于新陈代谢先天错误的医学领域已经从疾病识别和机制发现发展到旨在颠覆生化缺陷的治疗方法的发展。在这篇综述中，我们重点介绍了先天性代谢错误的治疗和诊断方面的主要里程碑，首先是20世纪50年代和60年代苯丙酮尿症的饮食治疗，最后是目前的基因操作方法。
From Sir Archibald Garrod's initial description of the tetrad of albinism, alkaptonuria, cystinuria, and pentosuria to today, the field of medicine dedicated to inborn errors of metabolism has evolved from disease identification and mechanistic discovery to the development of therapies designed to subvert biochemical defects. In this review, we highlight major milestones in the treatment and diagnosis of inborn errors of metabolism, starting with dietary therapy for phenylketonuria in the 1950s and 1960s, and ending with current approaches in genetic manipulation.