A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
UDP-glucose dehydrogenase (UGDH) encodes an oxidoreductase that converts two successive oxidations of UDP-glucose to produce UDP-glucuronic acid, a key component in the synthesis of several polysaccharides such as glycosaminoglycan and the disaccharide hyaluronic acid. UGDH is critical to the produc...
Main Authors: | , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2020-02-01
|
Series: | Frontiers in Pediatrics |
Subjects: | |
Online Access: | https://www.frontiersin.org/article/10.3389/fped.2020.00071/full |