中国当代儿科杂志2024，Vol.26Issue(5)：512-517,6.DOI:10.7499/j.issn.1008-8830.2310050
苯丁酸甘油酯治疗儿童鸟氨酸氨甲酰基转移酶缺乏症1例
Treatment of ornithine transcarbamylase deficiency in a child with glyceryl phenylbutyrate
摘要
Abstract
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 de novo mutation in the OTC gene(c.241T＞C,p.S81P).Blood ammonia levels were approximately 43,80,and 56 μmol/L at 1,2,and 3 months after starting GPB treatment,respectively.During treatment,blood ammonia was well-controlled without drug-related adverse effects.The patient showed improvement in developmental delays,obedience,temperament,and absence of aggressive behavior.关键词
苯丁酸甘油酯/鸟氨酸氨甲酰基转移酶缺乏症/尿素循环障碍/高氨血症/药学监测/儿童Key words
Glyceryl phenylbutyrate/Ornithine aminotransferase deficiency/Urea cycle disorder/Hyperammonemia/Pharmacological monitoring/Child引用本文复制引用
杨帆,李浩,常国营,王秀敏,王立瑞,李辛,胡佳悦,应令雯,冯碧云,李芸芸,林卡娜,佘佳笑..苯丁酸甘油酯治疗儿童鸟氨酸氨甲酰基转移酶缺乏症1例[J].中国当代儿科杂志,2024,26(5):512-517,6.基金项目
上海市"科技创新行动计划"医学创新研究专项(20MC1920400) （20MC1920400）
浦东新区卫健委联合攻关项目(PW2021D-13). （PW2021D-13）
