학술논문
L-Fucose treatment of FUT8-CDG
Document Type
article
Author
Source
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100680- (2020)
Subject
Language
English
ISSN
2214-4269
Abstract
FUT8-CDG is a severe multisystem disorder caused by mutations in FUT8, encoding the α-1,6-fucosyltransferase. We report on dizygotic twins with FUT8-CDG presenting with dysmorphisms, failure to thrive, and respiratory abnormalities. Due to the severe phenotype, oral L-fucose supplementation was started. Glycosylation analysis using mass spectrometry indicated a limited response to fucose therapy while the clinical presentation stabilized. Further research is needed to assess the concept of substrate supplementation in FUT8-CDG.