Centre for Child and Adolescent Medicine, Department 1, University of Heidelberg, Heidelberg, Germany.
Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
J Inherit Metab Dis. 2021 Nov;44(6):1441-1452. doi: 10.1002/jimd.12426. Epub 2021 Sep 15.
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.
岩藻糖基化对于细胞间和细胞内识别、细胞-细胞相互作用、受精和炎症过程是必不可少的。迄今为止，仅描述了五种与岩藻糖基化受损相关的先天性糖基化障碍（CDG）：FUT8-CDG、FCSK-CDG、POFUT1-CDG、SLC35C1-CDG 和最近才描述的 GFUS-CDG。本综述总结了迄今为止所有已知的 25 名受这些缺陷影响的患者的临床表现，涉及他们的病理生理学和基因型。此外，我们描述了五个新的 SLC35C1 基因中存在新变异的患者。此外，我们还讨论了不同缺陷中岩藻糖治疗方法的效果。
