Congenital disorders of glycosylation with defective fucosylation
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Congenital disorders of glycosylation with defective fucosylation. / Hüllen, Andreas; Falkenstein, Kristina; Weigel, Corina; Huidekoper, Hidde; Naumann-Bartsch, Nora; Spenger, Johannes; Feichtinger, René G; Schaefers, Jacqueline; Frenz, Stephanie; Kotlarz, Daniel; Momen, Tooba; Khoshnevisan, Razieh; Riedhammer, Korbinian M; Santer, René; Herget, Theresia; Rennings, Alexander; Lefeber, Dirk J; Mayr, Johannes A; Thiel, Christian; Wortmann, Saskia B.
in: J INHERIT METAB DIS, Jahrgang 44, Nr. 6, 08.2021, S. 1441-1452.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Congenital disorders of glycosylation with defective fucosylation
AU - Hüllen, Andreas
AU - Falkenstein, Kristina
AU - Weigel, Corina
AU - Huidekoper, Hidde
AU - Naumann-Bartsch, Nora
AU - Spenger, Johannes
AU - Feichtinger, René G
AU - Schaefers, Jacqueline
AU - Frenz, Stephanie
AU - Kotlarz, Daniel
AU - Momen, Tooba
AU - Khoshnevisan, Razieh
AU - Riedhammer, Korbinian M
AU - Santer, René
AU - Herget, Theresia
AU - Rennings, Alexander
AU - Lefeber, Dirk J
AU - Mayr, Johannes A
AU - Thiel, Christian
AU - Wortmann, Saskia B
N1 - © 2021 SSIEM.
PY - 2021/8
Y1 - 2021/8
N2 - 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.
AB - 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.
KW - Adolescent
KW - Adult
KW - Child
KW - Child, Preschool
KW - Congenital Disorders of Glycosylation/drug therapy
KW - Female
KW - Fibroblasts/metabolism
KW - Fucose/therapeutic use
KW - Glycoproteins
KW - Glycosylation
KW - Humans
KW - Infant
KW - Male
KW - Monosaccharide Transport Proteins/genetics
KW - Treatment Outcome
KW - Young Adult
U2 - 10.1002/jimd.12426
DO - 10.1002/jimd.12426
M3 - SCORING: Journal article
C2 - 34389986
VL - 44
SP - 1441
EP - 1452
JO - J INHERIT METAB DIS
JF - J INHERIT METAB DIS
SN - 0141-8955
IS - 6
ER -