TY - JOUR
T1 - Established and emerging treatments for patients with inborn errors of metabolism
AU - Breilyn, Margo Sheck
AU - Wasserstein, Melissa P.
N1 - Publisher Copyright:
© 2020 by the American Academy of Pediatrics. All rights reserved.
PY - 2020/10
Y1 - 2020/10
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85091822417&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85091822417&partnerID=8YFLogxK
U2 - 10.1542/neo.21-10-e699
DO - 10.1542/neo.21-10-e699
M3 - Article
C2 - 33004565
AN - SCOPUS:85091822417
SN - 0191-9601
VL - 21
SP - e699-e707
JO - NeoReviews
JF - NeoReviews
IS - 10
M1 - e699
ER -