Center for Child and Adolescent Medicine, Center for Metabolic Diseases Heidelberg, Kinderheilkunde I Im Neuenheimer Feld 433, 69120, Heidelberg, Germany.
Glycoconj J. 2013 Jan;30(1):77-84. doi: 10.1007/s10719-012-9447-5. Epub 2012 Sep 16.
Inborn errors in glycoconjugate biosynthesis termed 'Congenital Disorders of Glycosylation' (CDG) comprise a rapidly expanding group of metabolic diseases in man. Up till now more than 60 different inherited disorders in N- and O-glycosylation pathways have been identified. They affect the biosynthesis of glycan moieties linked to proteins as well as lipids. Due to failures in protein glycosylation, CDG patients suffer from multi systemic disorders, which mostly present with severe psychomotor and mental retardations, muscular impairment, ataxia, failure to thrive and developmental delay. Although improved biochemical and genetic investigations led to identification of a variety of new molecular defects in glycoconjugate biosynthesis, effective therapies for most types of the CDG are so far not available. Therefore, intensive investigations on treatment options for this group of diseases have been carried out in recent years.
在聚糖生物合成中出现的先天错误被称为“先天性糖基化障碍”（CDG），它是人类中一类迅速扩展的代谢疾病。到目前为止，已经发现了 60 多种不同的 N-和 O-聚糖途径的遗传性疾病。它们影响连接到蛋白质和脂质的聚糖部分的生物合成。由于蛋白质糖基化的失败，CDG 患者患有多种系统性疾病，这些疾病主要表现为严重的精神运动和智力迟缓、肌肉损伤、共济失调、生长不良和发育迟缓。尽管生化和遗传研究的改进导致了糖复合物生物合成中各种新的分子缺陷的鉴定，但迄今为止，大多数类型的 CDG 仍没有有效的治疗方法。因此，近年来对这组疾病的治疗选择进行了深入的研究。
