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.

中文翻译：

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FUT8-CDG 的 L-岩藻糖处理

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FUT8突变引起。我们报告了 FUT8-CDG 双卵双胞胎出现畸形、发育迟缓和呼吸异常。由于严重的表型，开始口服 L-岩藻糖补充剂。使用质谱法进行的糖基化分析表明对岩藻糖治疗的反应有限，而临床表现稳定。需要进一步研究来评估 FUT8-CDG 中底物补充的概念。