As a common urea-cycle disorder, ornithine 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 wo...As a common urea-cycle disorder, ornithine 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 2d 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.展开更多
基金Clinical Trial of Xinhua Hospital(Grant No.15LC11)。
文摘As a common urea-cycle disorder, ornithine 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 2d 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.
