Jaeken J, Matthijs G
Department of Paediatrics, Centre for Metabolic Disease, University of Leuven, Leuven, Belgium.
Annu Rev Genomics Hum Genet. 2001;2:129-51. doi: 10.1146/annurev.genom.2.1.129.
Congenital disorders of glycosylation (CDG) are a rapidly growing group of genetic diseases that are due to defects in the synthesis of glycans and in the attachment of glycans to other compounds. Most CDG are multisystem diseases that include severe brain involvement. The CDG causing sialic acid deficiency of N-glycans can be diagnosed by isoelectrofocusing of serum sialotransferrins. An efficient treatment, namely oral D-mannose, is available for only one CDG (CDG-Ib). In many patients with CDG, the basic defect is unknown (CDG-x). Glycan structural analysis, yeast genetics, and knockout animal models are essential tools in the elucidation of novel CDG. Eleven primary genetic glycosylation diseases have been discovered and their basic defects identified: six in the N-glycan assembly, three in the N-glycan processing, and two in the O-glycan (glycosaminoglycan) assembly. This review summarizes their clinical, biochemical, and genetic characteristics and speculates on further developments in this field.
先天性糖基化障碍（CDG）是一类迅速增多的遗传性疾病，其病因是聚糖合成以及聚糖与其他化合物连接过程中的缺陷。大多数CDG是多系统疾病，包括严重的脑部受累。导致N-聚糖唾液酸缺乏的CDG可通过血清唾液酸转铁蛋白的等电聚焦进行诊断。目前仅有一种CDG（CDG-Ib）有有效的治疗方法，即口服D-甘露糖。在许多CDG患者中，根本缺陷尚不清楚（CDG-x）。聚糖结构分析、酵母遗传学和基因敲除动物模型是阐明新型CDG的重要工具。现已发现11种原发性遗传性糖基化疾病并确定了其根本缺陷：6种与N-聚糖组装有关，3种与N-聚糖加工有关，2种与O-聚糖（糖胺聚糖）组装有关。本文综述了它们的临床、生化和遗传特征，并对该领域的进一步发展进行了推测。
