[Treatment of ornithine transcarbamylase deficiency in a child with glyceryl phenylbutyrate]. / è¯ä¸é
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Zhongguo Dang Dai Er Ke Za Zhi
; 26(5): 512-517, 2024 May 15.
Article
in Zh
| MEDLINE
| ID: mdl-38802913
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenylbutyrates
/
Ornithine Carbamoyltransferase Deficiency Disease
Limits:
Child
/
Humans
/
Male
Language:
Zh
Journal:
Zhongguo Dang Dai Er Ke Za Zhi
/
Zhongguo dangdai erke zazhi
Year:
2024
Document type:
Article
Affiliation country:
Country of publication: