L-Fucose treatment of FUT8-CDG

Mol Genet Metab Rep. 2020 Dec 5:25:100680. doi: 10.1016/j.ymgmr.2020.100680. eCollection 2020 Dec.

Abstract

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.

Keywords: Congenital disorders of glycosylation; Fucose; Mass spectrometry; Therapy.