L-Fucose treatment of FUT8-CDG
Julien H. Park, Janine Reunert, Miao He, Robert G. Mealer, Maxence Noël, Yoshinao Wada, Marianne Grüneberg, Judit Horváth, Richard D. Cummings, Oliver Schwartz, Thorsten Marquardt
Abstract
, 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.
Topics & Concepts
FucoseFailure to thriveFucosylationMedicinePhenotypeInternal medicineChemistryBiochemistryGlycoproteinGeneGlycosylation and Glycoproteins ResearchCarbohydrate Chemistry and SynthesisGalectins and Cancer Biology