糖基化先天性疾病：一组具有多方面特征的综合征。
The congenital disorders of glycosylation: a multifaceted group of syndromes.
作者信息
Eklund Erik A, Freeze Hudson H
机构信息
Department of Cell and Molecular Biology, Lund University, Lund, Sweden.
出版信息
NeuroRx. 2006 Apr;3(2):254-63. doi: 10.1016/j.nurx.2006.01.012.
Abstract
The congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic syndromes with a wide symptomatology and severity. They all stem from deficient N-glycosylation of proteins. To date the group contains 18 different subtypes: 12 of Type I (disrupted synthesis of the lipid-linked oligosaccharide precursor) and 6 of Type II (malfunctioning trimming/processing of the protein-bound oligosaccharide). Main features of CDG involve psychomotor retardation; ataxia; seizures; retinopathy; liver fibrosis; coagulopathies; failure to thrive; dysmorphic features, including inverted nipples and subcutaneous fat pads; and strabismus. No treatment currently is available for the vast majority of these syndromes (CDG-Ib and CDG-IIc are exceptions), even though attempts to synthesize drugs for the most common subtype, CDG-Ia, have been made. In this review we will discuss the individual syndromes, with focus on their neuronal involvement, available and possible treatments, and future directions.
摘要
糖基化先天性疾病（CDG）是一类迅速增多的代谢综合征，症状表现多样，严重程度不一。它们均源于蛋白质N-糖基化缺陷。目前该组疾病包含18种不同亚型：I型12种（脂质连接寡糖前体合成受阻），II型6种（蛋白质结合寡糖修剪/加工功能异常）。CDG的主要特征包括精神运动发育迟缓、共济失调、癫痫发作、视网膜病变、肝纤维化、凝血障碍、生长发育不良、畸形特征（包括乳头内陷和皮下脂肪垫）以及斜视。尽管针对最常见的亚型CDG-Ia已尝试研发药物，但目前绝大多数这些综合征（CDG-Ib和CDG-IIc除外）仍无有效治疗方法。在本综述中，我们将讨论各个综合征，重点关注其对神经元的影响、现有及可能的治疗方法以及未来方向。
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