在台湾的芳香性l-氨基酸脱碳酶缺乏
Wuh-Liang Hwu1,2,3, Rai-Hseng Hsu2, Mei-Hsin Li2
1Department of Pediatrics National Taiwan University Hospital Taipei Taiwan.
JIMD reports
|September 13, 2023
概括
芳香性l-氨基酸脱碳酶缺乏症是一种罕见的遗传疾病. 这项在台湾的研究发现,大多数病例都由共同的创始基因突变造成,许多患者正在等待治疗.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 芳香性l-氨基酸脱碳酶 (AADC) 缺乏症是一种罕见的遗传神经代谢障碍,影响神经递质合成.
- 在中国人群中,DDC创始突变c.714+4A>T是普遍存在的.
研究的目的:
- 调查台湾AADC缺乏症的流行病学.
- 分析2000年1月至2023年3月期间从国家台湾大学医院 (NTUH) 获取的患者数据.
主要方法:
- 77名在NTUH诊断和治疗的AADC缺乏症患者的回顾性分析.
- 基因型定型以确定c.714+4A>T突变的流行率.
- 疾病严重程度的表型评估.
主要成果:
- 在中国族裔患者中,c.714+4A>T突变在85%的突变基因中被确定.
- 94%的患者呈现出严重的表型.
- 基因疗法通过临床试验给了31名患者,平均年龄为3.76岁.
结论:
- c.714+4A>T突变是台湾华人人口中AADC缺乏的主要原因.
- 尽管发病率低于新生儿查数据,但病例激增与临床试验启动和查实施有关.
- 目前有大量的年轻患者正在等待AADC缺乏症治疗.
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