Abstract: Objective　To  investigate the incidence of acute liver failure in argininemia. Methods　We retrospectively analyzed 6 cases of children with argininemia. Medical data were collected retrospectively. The stored blood of the children was tested and the mutation of ARG1 gene was analyzed. Results　All of the patients had coagulation dysfunction. Three patients（50%） were diagnosed with acute liver failure（INR≥2.0），with INR values ranging from 2.5 to 4.6（normal＜1.2）. Blood ammonia levels ranged from 68 μmol/L to 252 μmol/L（normal＜45 μmol/L）. Two of them（patient 1 and 4） had minor bleeding points. All the 6 patients had ARG1 double gene heterozygous mutation，which is in accordance with argininemia. Conclusion　Acute liver failure is a common complication of argininemia. For children with unexplained，the possibility of genetic metabolic disease should be considered.Argininemia patients should be investigated for coagulation disorders even if there is no apparent liver dysfunction or major bleeding symptoms.

Key words: argininemia, arginase, acute liver failure, coagulation

摘要： 目的　分析急性肝功能衰竭在精氨酸血症患者中的发病情况。方法　回顾性分析2018年1月至12月首都医科大学附属北京友谊医院肝脏移植中心确诊的6例精氨酸血症患儿，收集其相关医疗数据，并对已留存患儿的血液进行检测，对ARG1基因突变进行分析。结果　6例患儿均有凝血功能异常，3例（50%）符合急性肝功能衰竭诊断，国际标准化比值（INR）范围2.5～4.6（正常＜1.2），血氨水平68～252 μmol/L（正常＜45 μmol/L），其中2例（例1、例4）体检发现小的出血点。6例患儿均存在ARG1基因复合突变，符合精氨酸酶缺乏症。结论　急性肝功能衰竭是精氨酸血症的并发症之一。对于原因不明的肝功能损害儿童，应考虑遗传代谢病的可能。对于已明确诊断精氨酸血症的患儿，即使没有明显的肝功能障碍或大出血，也应调查其凝血功能。

关键词: 精氨酸血症, 精氨酸酶, 急性肝功能衰竭, 凝血