期刊: Prescrire International

Journal: Prescrire International

出版日期: 2008年4月

Publication Date: April 2008

卷: 17

Volume: 17

期: 94

Issue: 94

页码: 50-51

Pages: 50-51

PubMed ID: 18516804

摘要 / Abstract

1. 病症背景 / Background: N-乙酰谷氨酸合成酶（NAGS）缺乏症是一种罕见的先天性疾病，导致高氨血症昏迷，严重影响神经系统，通常在儿童期导致死亡。

   N-acetylglutamate synthase (NAGS) deficiency is a rare congenital disorder that causes hyperammonaemic comas, resulting in severe neurological morbidity and usually leading to death during childhood.

2. 治疗突破 / Therapeutic Breakthrough: 卡格鲁氨酸（carglumic acid）是首个用于替代治疗的药物。2003年的数据显示，该药物对生长和心理运动发育有益。

   Carglumic acid is the first drug to be used for replacement therapy. Data available in 2003 showed beneficial effects on growth and psychomotor development.

3. 疗效观察 / Efficacy Observation: 到2007年，大约20名接受卡格鲁氨酸治疗的患者，其中一半以上接受治疗超过5年，均存活下来。在并发症发生前开始治疗的患者，其发育情况正常。

   By 2007, about 20 patients treated with carglumic acid for NAGS deficiency, for at least 5 years in half of cases, were all still alive. Their development was normal when treatment was initiated before complications occurred.

4. 安全性 / Safety: 未观察到严重不良反应。

   No serious adverse effects have been observed.

5. 临床实践 / Clinical Practice: 尽管治疗需终生持续，卡格鲁氨酸对NAGS缺乏症患者而言是一项重大进展。

   In practice, although this treatment has to continue for life, carglumic acid represents a major advance for patients with NAGS deficiency.

相关化合物的CAS号 / CAS Numbers of Related Compounds

以下是文献中提到的一些化合物及其对应的CAS号：

The following are some compounds mentioned in the document along with their respective CAS numbers:

1. 卡格鲁氨酸 (Carglumic acid):

   - CAS号: 1188-38-1

   - CAS Number: 1188-38-1

2. N-乙酰谷氨酸 (N-Acetylglutamate):

   - CAS号: 1188-37-0

   - CAS Number: 1188-37-0