A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia

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...

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Bibliographic Details
Main Authors: Kheloud M. Alhamoudi, Javaid Bhat, Marwan Nashabat, Masheal Alharbi, Yusra Alyafee, Abdulaziz Asiri, Muhammad Umair, Majid Alfadhel
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Pediatrics
Subjects:
UGDH
hypotonia
GDD
missense
Saudi population
rare genetic disease
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00071/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2020.00071/full

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