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. 2021 Nov;44(6):1441-1452.
doi: 10.1002/jimd.12426. Epub 2021 Sep 15.

Congenital disorders of glycosylation with defective fucosylation

Andreas Hüllen  1 , Kristina Falkenstein  1 , Corina Weigel  2 , Hidde Huidekoper  3 , Nora Naumann-Bartsch  2 , Johannes Spenger  4 , René G Feichtinger  4 , Jacqueline Schaefers  3 , Stephanie Frenz  5 , Daniel Kotlarz  5 , Tooba Momen  6 , Razieh Khoshnevisan  7   8 , Korbinian M Riedhammer  9   10 , René Santer  11 , Theresia Herget  12 , Alexander Rennings  13 , Dirk J Lefeber  14 , Johannes A Mayr  4 , Christian Thiel  1 , Saskia B Wortmann  4   13
Affiliations

Congenital disorders of glycosylation with defective fucosylation

Andreas Hüllen et al. J Inherit Metab Dis. 2021 Nov.

Abstract

Fucosylation is essential for intercellular 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.

Keywords: CDG; coarse facial features; developmental delay; epilepsy; fucosylation; intellectual disability; neutrophilia.

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References

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