Congenital disorders of glycosylation with defective fucosylation.
CDG
coarse facial features
developmental delay
epilepsy
fucosylation
intellectual disability
neutrophilia
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
revised:
02
08
2021
received:
19
04
2021
accepted:
10
08
2021
pubmed:
15
8
2021
medline:
4
2
2022
entrez:
14
8
2021
Statut:
ppublish
Résumé
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.
Substances chimiques
Glycoproteins
0
Monosaccharide Transport Proteins
0
SLC35C1 protein, human
0
Fucose
28RYY2IV3F
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1441-1452Informations de copyright
© 2021 SSIEM.
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