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先天性糖基化障碍(congenital disorders of glycosylation，CDG)是由于聚糖的合成以及结合到蛋白质及脂质的过程缺陷导致的一种代谢性疾病。迄今为止，已经发现了100多种先天性糖基化障碍。该病可引起肝脏、肾脏、心脏等多器官的功能损害。其中以肝脏受累为主要表现的疾病类型有MPI-CDG、TMEM199-CDG、CCDC115-CDG及ATP6AP1-CDG；其临床表现可有肝脏肿大、转氨酶升高、胆汁淤积、肝脏纤维化、肝功能衰竭、铜蓝蛋白异常、铜蓄积等；病理表现可有脂肪变性、纤维化、肝硬化、胆汁淤积、胆管异常等。该文主要介绍了糖基化障碍的发病机制、临床表现、肝脏受累的表现及相关CDG类型，为有肝脏表现的CDG的诊断提供思路。“,”Congenital disorders of glycosylation(CDG)are caused by defects in the synthesis of glycans and their binding to proteins and lipids.Up to now, over 100 types of CDG have been identified.This disease can cause functional damage to multiple organs including liver, kidney and heart.The CDG types with predominant or isolated liver involvement including MPI-CDG, TMEM199-CDG, CCDC115-CDG, and ATP6AP1-CDG.Their clinical manifestations include enlarged liver, elevated transaminase, cholestasis, liver fibrosis, liver failure, abnormal ceruloplasmin, and copper accumulation.Their pathological manifestations include steatosis, fibrosis, liver cirrhosis, cholestasis, and abnormal bile duct.This review mainly describes the types of CDG and their pathogenesis, clinical manifestations and liver involvement to provide a perspective for the diagnosis of CDG with liver manifestations.