L-Fucose treatment of FUT8-CDG
- Park, Julien H.
- Reunert, Janine
- He, Miao
- Mealer, Robert G.
- Noel, Maxence
- Wada, Yoshinao
- Grueneberg, Marianne
- Horvath, Judit
- Cummings, Richard D.
- Schwartz, Oliver
- Marquardt, Thorsten
DOIAbstract
FUT8-CDG is a severe multisystem disorder caused by mutations in FUT8, encoding the alpha-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
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