| Autor: |
Julien H. Park, Janine Reunert, Miao He, Robert G. Mealer, Maxence Noel, Yoshinao Wada, Marianne Grüneberg, Judit Horváth, Richard D. Cummings, Oliver Schwartz, Thorsten Marquardt |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100680- (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2020.100680 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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