CONGENITAL DISORDERS OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION

Fucosylation is essential for inter- and intracellular recognition, cell-cell interaction, fertilization and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8-CDG, FCSK-CDG, POFUT1-CDG SLC35C1-CDG and the only recently described GFUS-CDG. This review summarizes the clinical findings of all hitherto known 25 patients affected with those defects with regard to their pathophysiology and genotype. In addition, we describe five new patients with novel variants in the SLC35C1-gene. Furthermore, we discuss the efficacy of fucose therapy approaches within the different defects. This article is protected by copyright. All rights reserved.