McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University, Baltimore, Maryland2Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
JAMA Pediatr. 2015 Aug;169(8):778-82. doi: 10.1001/jamapediatrics.2015.0754.
Inborn errors of metabolism (IEMs) are a large class of genetic disorders characterized by disruption of cellular biochemical functions. Although individual IEMs are rare, collectively they represent a large and diverse class of genetic conditions, with new disorders and disease mechanisms being described regularly. Advances in the understanding of the molecular and biochemical etiologies of many IEMs via modalities such as whole-exome sequencing and metabolomics have led to significant progress in detection and treatment in recent years. In this review, we examine the current state of newborn screening for IEMs, recent advances in therapy for IEMs (including glutaric aciduria type I, urea cycle disorders, mitochondrial disorders, and lysosomal storage disorders), and opportunities for further exploration and discovery.
先天性代谢缺陷（IEMs）是一大类遗传疾病，其特征是细胞生化功能紊乱。尽管个别 IEMs 较为罕见，但它们共同构成了一大类多样化的遗传病症，新的疾病和发病机制也在不断被描述。通过全外显子测序和代谢组学等方式，对许多 IEMs 的分子和生化病因的理解不断深入，近年来在检测和治疗方面取得了显著进展。在这篇综述中，我们研究了目前对 IEMs 的新生儿筛查状况、IEMs 治疗的最新进展（包括戊二酸血症 I 型、尿素循环障碍、线粒体疾病和溶酶体贮积症），以及进一步探索和发现的机会。
