[Treatment of ornithine transcarbamylase deficiency in a child with glyceryl phenylbutyrate].

Glyceryl phenylbutyrate (GPB) serves as a long-term management medication for Ornithine transcarbamylase deficiency (OTCD), effectively controlling hyperammonemia, but there is a lack of experience in using this medicine in China. This article retrospectively analyzes the case of a child diagnosed with OTCD at Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, including a review of related literature. After diagnosis, the patient was treated with GPB, followed by efficacy follow-up and pharmacological monitoring. The 6-year and 6-month-old male patient exhibited poor speech development, disobedience, temper tantrums, and aggressive behavior. Blood ammonia levels peaked at 327 μmol/L; urine organic acid analysis indicated elevated uracil levels; cranial MRI showed extensive abnormal signals in both cerebral hemispheres. Genetic testing revealed 苯丁酸甘油酯（glyceryl phenylbutyrate, GPB）是治疗鸟氨酸氨甲酰基转移酶缺乏症（ornithine transcarbamylase deficiency, OTCD）的长期管理药物，可有效控制高氨血症，但国内使用该药的经验匮乏。该文回顾性分析上海交通大学医学院附属上海儿童医学中心1例诊断为OTCD的患儿资料，并进行相关文献复习。该患儿确诊后使用GPB治疗，随后进行疗效随访和药学监测。患儿，男，6岁6个月，语言发育差，不听指令，脾气暴躁并伴有攻击性行为。监测血氨最高327 μmol/L；尿有机酸分析提示尿嘧啶水平升高；头颅磁共振成像示双侧大脑半球广泛异常信号；基因检测发现