L-Fucose treatment of FUT8-CDG.
Park JH, Reunert J, He M, Mealer RG, Noel M, Wada Y, Grüneberg M, Horváth J, Cummings RD, Schwartz O, Marquardt T
Research article (journal) | Peer reviewedAbstract
FUT8-CDG is a severe multisystem disorder caused by mutations in FUT8, encoding the α-1,6-fucosyltransferase. We report on dizygotic twins with FUT8-CDG presenting with dysmorphisms, failure to thrive, and respiratory abnormalities. Due to the severe phenotype, oral L-fucose supplementation was started. Glycosylation analysis using mass spectrometry indicated a limited response to fucose therapy while the clinical presentation stabilized. Further research is needed to assess the concept of substrate supplementation in FUT8-CDG.
Details about the publication
Journal: Molecular Genetics and Metabolism Reports
Volume: 25
Page range: 100680-100680
Status: Published
Release year: 2020 (31/12/2020)
Language in which the publication is written: English
Link to the full text: https://europepmc.org/articles/PMC7719959
Keywords: Congential disorders of glycosylation; fucose
Authors from the University of Münster
| Horvath, Judit | Institute of Human Genetics |
| Marquardt, Thorsten | University Children's Hospital - Department for General Paediatrics |
| Park, Julien Heinrich | University Children's Hospital - Department for General Paediatrics |
| Reunert, Janine | University Children's Hospital - Department for General Paediatrics |