Established and Emerging Treatments for Patients with Inborn Errors of Metabolism

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.