دورية أكاديمية
[Preliminary study of glyceryl phenylbutyrate therapy for Ornithine transcarbamylase deficiency and a literature review].
| العنوان: | [Preliminary study of glyceryl phenylbutyrate therapy for Ornithine transcarbamylase deficiency and a literature review]. |
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| المؤلفون: | Zhou D; Department of Genetics and Metabolism, the Children's Hospital Affiliated to Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, Zhejiang 310052, China. 6305022@zju.edu.cn., Shang X, Qiao Y, Cheng Y, Yu Z, Huang X |
| المصدر: | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Sep 10; Vol. 40 (9), pp. 1107-1112. |
| نوع المنشور: | Review; English Abstract; Journal Article |
| اللغة: | Chinese |
| بيانات الدورية: | Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University Original Publication: Chengdu : Hua xi yi ke da xue, |
| مواضيع طبية MeSH: | Ornithine Carbamoyltransferase Deficiency Disease*/drug therapy, Child ; Humans ; Phenylbutyrates/therapeutic use ; Ammonia ; Retrospective Studies |
| مستخلص: | Objective: To evaluate the efficacy and safety of glyceryl phenylbutyrate (GPB) therapy for patients with Ornithine transcarbamylase deficiency (OTCD). Methods: Two children with OTCD were selected as the study subjects, and their clinical manifestations, blood ammonia, liver enzymes, growth and development information following the treatment with GPB were retrospectively analyzed. A literature review was also carried out by searching the PubMed database for studies on the GPB treatment for urea cycle disorders. Results: With the GPB treatment, the blood ammonia and liver enzyme level in both patients have decreased to the normal range within 3 months. Motor development in child 2 has improved. No adverse reaction was noted, except for transient palmar greasy smell and loss of appetite in child 1. Analysis of the literature showed that patients had lower ammonia exposure, lower annual incidence of hyperammonemic crisis, more actual protein intake and fewer adverse events during GPB treatment. Conclusion: GPB is safe and effective for the treatment of OTCD. |
| المشرفين على المادة: | 7WY7YBI87E (4-phenylbutyric acid) 0 (Phenylbutyrates) 7664-41-7 (Ammonia) |
| تواريخ الأحداث: | Date Created: 20230829 Date Completed: 20230831 Latest Revision: 20230831 |
| رمز التحديث: | 20231215 |
| DOI: | 10.3760/cma.j.cn511374-20220624-00423 |
| PMID: | 37643956 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1003-9406 |
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| DOI: | 10.3760/cma.j.cn511374-20220624-00423 |