Established and emerging treatments for patients with inborn errors of metabolism

Research output: Contribution to journalArticlepeer-review

Abstract

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
JournalNeoReviews
Volume21
Issue number10
DOIs
StatePublished - Oct 2020

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Established and emerging treatments for patients with inborn errors of metabolism'. Together they form a unique fingerprint.

Cite this