Congenital disorders of glycosylation with defective fucosylation

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.

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

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Congenital Disorders of Glycosylation / drug therapy*
  • Congenital Disorders of Glycosylation / genetics*
  • Female
  • Fibroblasts / metabolism
  • Fibroblasts / pathology
  • Fucose / therapeutic use*
  • Glycoproteins
  • Glycosylation
  • Humans
  • Infant
  • Male
  • Monosaccharide Transport Proteins / genetics*
  • Treatment Outcome
  • Young Adult


  • Glycoproteins
  • Monosaccharide Transport Proteins
  • SLC35C1 protein, human
  • Fucose