Ferens-Sieczkowska Mirosława
Katedra i Zakład Chemii i Immunochemii Akademii Medycznej we Wrocławiu.
Postepy Hig Med Dosw. 2003;57(4):425-44.
Congenital disorders of glycosylation are group of hereditary diseases resulting in severe psychomotor retardation and multiorgan failure. So far eleven different defects were identified on the pathway of N-glycan biosynthesis. Seven of them belong to CDG type I and result in incomplete occupation of potential N-glycosylation sites. Four defects were found in N-glycan processing. Molecular background of CDG and potential perspectives of therapy are summarised and updated in this review.
糖基化先天性疾病是一组遗传性疾病，可导致严重的精神运动发育迟缓及多器官功能衰竭。迄今为止，在N-聚糖生物合成途径中已鉴定出11种不同的缺陷。其中7种属于I型先天性糖基化障碍（CDG），可导致潜在的N-糖基化位点未被完全占据。在N-聚糖加工过程中发现了4种缺陷。本文综述并更新了CDG的分子背景及潜在的治疗前景。
