Wolfe Lynne A, Krasnewich Donna
Genetic Nurse Practitioner, Undiagnosed Diseases Program, National Human Genome Research Institute, Bethesda, Maryland 20892, USA.
Dev Disabil Res Rev. 2013;17(3):211-25. doi: 10.1002/ddrr.1115.
The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60 disorders, affecting approximately 800 individuals, have been identified, many in the last 5 years. CDG should be considered in any multi-system syndrome or single tissue disorder not explained by the identification of another disorder. The initial clinical presentation varies significantly among individuals, even between affected siblings. However, two thirds of the known CDGs are associated with intellectual disabilities and most affected individuals need support services throughout their lives. Additional disorders of glycosylation are likely to be characterized over time.
糖基化先天性疾病（CDG）是一类快速增多的先天性代谢缺陷病，由聚糖合成缺陷引起。糖基化是一种主要的蛋白质翻译后修饰，估计人类基因组中有2%的基因编码参与糖基化的蛋白质。目前已确定了60种此类疾病的分子基础，影响约800人，其中许多是在过去5年中发现的。对于任何未通过鉴定其他疾病来解释的多系统综合征或单组织疾病，都应考虑CDG。最初的临床表现个体差异很大，即使是患病的兄弟姐妹之间也是如此。然而，已知的CDG中有三分之二与智力残疾有关，大多数患者一生都需要支持服务。随着时间的推移，可能会发现更多的糖基化相关疾病。
