Abstract: The patients with urea cycle disorders（UCDs）may showed various biochemical abnormalities and liver injury. Liver injury might be the initial symptom of UCDs. Clinicians should be aware of UCDs，especially in the patients with idiopathic liver injury combined with neurological manifestation. Management of liver injury in the patients with UCDs should be based on the cause. Liver transplantation may improve liver function and cure UCDs. Animal studies of cell transplantation and gene therapies for UCDs showed good safety profiles and efficacy，which need to be verified in clinical trials.

Key words: urea cycle disorders, hyperammonemia, liver injury, liver transplantation

摘要： 不同基因缺陷导致不同类型的尿素循环障碍（urea cycle disorders，UCDs），导致不同的生化改变与不同程度的肝脏损伤，其中部分UCDs患者首发表现为肝脏疾病。临床医师对于UCDs均要有充分认知，对于不明原因肝损伤合并神经系统表现者要考虑到UCDs可能性。对于UCDs合并肝损伤的治疗，要根据病因及肝损伤的程度给予相应治疗，肝移植可作为UCDs的对因治疗方法，改善UCDs患儿肝功能。针对UCDs的细胞移植与基因治疗研究，在动物实验阶段展示了良好的疗效与安全性，还需临床试验进一步验证。

关键词: 尿素循环障碍, 高氨血症, 肝损伤, 肝移植