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

• Main Authors: Kheloud M. Alhamoudi (Author), Javaid Bhat (Author), Marwan Nashabat (Author), Masheal Alharbi (Author), Yusra Alyafee (Author), Abdulaziz Asiri (Author), Muhammad Umair (Author), Majid Alfadhel (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...