缺陷的B4GALT1导致B4GALT1-CDG（CDG-2d）
中文名称
通路描述
缺陷的B4GALT1导致B4GALT1-CDG（CDG-2d）。糖基化先天性疾病（CDG，以前称为碳水化合物缺乏糖蛋白综合征，CDGSs）是一组遗传性多系统疾病。它们在生化上表现为糖蛋白的糖基化降低，通过血清转铁蛋白等电聚焦（IEF）诊断。CDG分为两种类型，类型I和类型II。类型I CDG在脂质连接寡糖的组装或它们向新生糖蛋白转移方面存在缺陷，而类型II CDG包括蛋白质结合糖的修剪、延伸和加工缺陷。临床症状主要由严重的运动发育迟缓和智力低下以及血液凝血异常主导（Jaeken 2013）。B4GALT1-CDG（CDG类型IId）是一种多系统疾病，特征为畸形面容、脑积水、低张力和血液凝血异常（Hansske et al. 2002）。
英文描述
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Congenital disorders of glycosylation (CDG, previously called carbohydrate-deficient glycoprotein syndromes, CDGSs), are a group of hereditary multisystem disorders. They are characterized biochemically by hypoglycosylation of glycoproteins, diagnosed by isoelectric focusing (IEF) of serum transferrin. There are two types of CDG, types I and II. Type I CDG has defects in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. Clinical symptoms are dominated by severe psychomotor and mental retardation, as well as blood coagulation abnormalities (Jaeken 2013). B4GALT1-CDG (CDG type IId) is a multisystem disease, characterized by dysmorphic features, hydrocephalus, hypotonia and blood clotting abnormalities (Hansske et al. 2002).
所含基因
7 个基因