Albert Einstein College of Medicine and the Children's Hospital at Montefiore, Bronx, NY.
Neoreviews. 2020 Oct;21(10):e699-e707. doi: 10.1542/neo.21-10-e699.
Inborn errors of metabolism (IEMs) are inherited defects in a metabolic pathway resulting in clinical disease. The overall goal of therapy is to restore metabolic homeostasis while minimizing the deleterious effects of the interruption. Conventional treatments focus on decreasing substrate, providing product, and replacing deficient enzyme or cofactor. We discuss examples of established, novel, and emerging therapies to provide a framework for understanding the principles of management for patients with IEMs.
先天性代谢缺陷（IEMs）是代谢途径中的遗传缺陷，导致临床疾病。治疗的总体目标是恢复代谢平衡，同时最大限度地减少中断的有害影响。传统的治疗方法侧重于减少底物、提供产物以及替代缺乏的酶或辅助因子。我们讨论了已确立的、新颖的和新兴的治疗方法的例子，为理解 IEM 患者的管理原则提供了一个框架。
