FUT8-CDG is a severe multisystem disorder caused by mutations in , 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7719959 | PMC |
| http://dx.doi.org/10.1016/j.ymgmr.2020.100680 | DOI Listing |
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