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鸟氨酸氨甲酰转移酶缺陷症(Omithine transcarbamylase,OTCD)是尿素循环障碍(UCDs)的一种常见类型.尿素循环过程受阻,氨不能形成无毒尿素排除体外,引起高血氨症.本文报道一例28岁女性,第一次妊娠后确诊为OTCD,针对高氨血症及并发症,给予精氨酸、瓜氨酸和苯甲酸钠等联合治疗,限制蛋白质摄入,患者病情控制,剖宫产一男婴,2天后死亡.第二次妊娠,染色体检查此胎仍为OTCD,行引产手术治疗.第三次妊娠,排除胎儿OTCD可能,口服苯甲酸钠治疗,血氨水平基本稳定,剖宫产一存活男婴.本病例阐述了一例妊娠期OTCD患者的治疗过程,对使用苯甲酸钠的安全性和有效性进行评估,为罕见疾病的药物选择与治疗提供经验和依据.“,”As a common urea-cycle disorder,omithine transcarbamylase deficiency (OTCD) disables the conversion of ammonia into non-toxic urea,and its subsequent excretion results in hyperammonemia.We reported a 28-year-old woman who was diagnosed with OTCD during her first pregnancy.She was treated with arginine,citrulline and sodium benzoate for complications associated with hyperammonemia,and her protein intake was restricted.The patient's condition was stabilized,and she delivered a baby boy via cesarean section.However,the baby died 2 d later.During her second pregnancy,prenatal screening suggested that the fetus had OTCD,and an induced abortion was performed.During her third pregnancy,fetal OTCD was ruled out,and the patient was treated with oral sodium benzoate.Her blood ammonia level was stabilized,and a baby boy was successfully delivered via cesarean section.This case described the treatment process of the pregnant patient with OTCD,and the safety and efficacy of sodium benzoate were evaluated.Collectively,our findings provided the experience and evidence for the drug selection and treatment of these rare diseases.