用L-岩藻糖治疗岩藻糖基转移酶8先天性糖基化障碍（FUT8-CDG）。
L-Fucose treatment of FUT8-CDG.
作者信息
Park Julien H, Reunert Janine, He Miao, Mealer Robert G, Noel Maxence, Wada Yoshinao, Grüneberg Marianne, Horváth Judit, Cummings Richard D, Schwartz Oliver, Marquardt Thorsten
机构信息
Department of General Pediatrics, University of Münster, Münster, Germany.
Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden.
出版信息
Mol Genet Metab Rep. 2020 Dec 5;25:100680. doi: 10.1016/j.ymgmr.2020.100680. eCollection 2020 Dec.
FUT8-CDG is a severe multisystem disorder caused by mutations in , 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.
FUT8-CDG是一种严重的多系统疾病，由编码α-1,6-岩藻糖基转移酶的基因突变引起。我们报告了一对患有FUT8-CDG的异卵双胞胎，他们表现出畸形、发育不良和呼吸异常。由于表型严重，开始口服L-岩藻糖补充剂。使用质谱进行的糖基化分析表明，岩藻糖治疗的反应有限，而临床表现稳定。需要进一步研究以评估FUT8-CDG中底物补充的概念。
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