Congenital disorders of glycosylation with defective fucosylation

Andreas Hüllen, Kristina Falkenstein, Corina Weigel, Hidde Huidekoper, Nora Naumann-Bartsch, Johannes Spenger, René G. Feichtinger, Jacqueline Schaefers, Stephanie Frenz, Daniel Kotlarz, Tooba Momen, Razieh Khoshnevisan, Korbinian M. Riedhammer, René Santer, Theresia Herget, Alexander Rennings, Dirk J. Lefeber, Johannes A. Mayr, Christian Thiel, Saskia B. Wortmann*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1441-1452
Number of pages12
JournalJournal of Inherited Metabolic Disease
Volume44
Issue number6
Early online date12 Aug 2021
DOIs
Publication statusPublished - Nov 2021

Bibliographical note

Funding Information:
Deutsche Forschungsgemeinschaft, Forschungsgruppe FOR 2509, Project-ID TH1461/7-2; European Comission, E-Rare-3 Joint Transnational Call 2018/ EUROGLYCANOMICS in association with the DFG, Project-ID TH1461/9-1; Oesterreichische Nationalbank, Grant/Award Number: 18023

Publisher Copyright:
© 2021 SSIEM

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