一种与新型LIPA变种相关的代谢相关的脂肪肝疾病形式
Amir Anushiravani1, Hossein Jafari Khamirani2, Ashraf Mohamadkhani1
1Digestive Diseases Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Archives of Iranian medicine
|August 6, 2023
概括
一个新的LIPA基因变异 (p.Trp310Arg) 在一个患有脂肪肝和脂质失调症的伊朗家庭中被发现. 这种变异与 lysosomal酸脂酶缺乏症 (LAL-D) 有关,导致严重的健康问题,如肝硬化.
科学领域:
- 遗传学和基因组学 在
- 生物化学 生物化学
- 肝病学 肝病学是一种肝病学.
背景情况:
- lysosomal酸脂酶 (LAL) 缺乏,由LIPA基因的致病变体引起,导致沃尔曼病和胆固醇储存疾病.
- LIPA基因位于染色体10q23.31上,编码LAL酶,对脂质代谢至关重要.
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