Congenital disorder of glycosylation with defective fucosylation

Definition:

Congenital disorder of glycosylation with defective fucosylation (CDGF) is a rare inherited metabolic disorder due to abnormalities in fucosylation, which is an enzymatic process of incorporating L-fucose into the N- and O-glycans of proteins or glycolipids. Fucosylation requires both the generation of the donor substrate GDP-fucose and the presence of a set of fucosyltransferases.

References:

[1]. Bobby G Ng, et al. Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. Am J Hum Genet. 2018 Jan 4;102(1):188-195. [Content Brief]

[2]. Bobby G Ng, et al. Expanding the molecular and clinical phenotypes of FUT8-CDG. J Inherit Metab Dis. 2020 Jul;43(4):871-879. [Content Brief]

[3]. Bobby G Ng, et al. Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet. 2018 Dec 6;103(6):1030-1037. [Content Brief]

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