Treatment of ornithine transcarbamylase deficiency in a child with glyceryl phenylbutyrate
10.7499/j.issn.1008-8830.2310050
- VernacularTitle: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
- Author:
Fan YANG
1
;
Li-Rui WANG
;
Xin LI
;
Jia-Yue HU
;
Ling-Wen YING
;
Bi-Yun FENG
;
Yun-Yun LI
;
Ka-Na LIN
;
Jia-Xiao SHE
;
Hao LI
;
Guo-Ying CHANG
;
Xiu-Min WANG
Author Information
1. 上海交通大学医学院附属上海儿童医学中心临床研究病区,上海 200127
- Keywords:
Glyceryl phenylbutyrate;
Ornithine aminotransferase deficiency;
Urea cycle disorder;
Hyperammonemia;
Pharmacological monitoring;
Child
- From:
Chinese Journal of Contemporary Pediatrics
2024;26(5):512-517
- CountryChina
- Language:Chinese
-
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.
