Established and emerging treatments for patients with inborn errors of metabolism

Margo Sheck Breilyn, Melissa P. Wasserstein

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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.

Original languageEnglish (US)
Article numbere699
Pages (from-to)e699-e707
Issue number10
StatePublished - Oct 2020

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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