在患有NAXD遗传变异患者的常规4个月免疫接种后,发生渐进性脑病变
Marissa Cepress1, Ethan Grund1, Tomas Leng1
1Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, USA.
American journal of medical genetics. Part A
|January 12, 2024
概括
当修复酶NAXD或NAXE缺乏时,一种有毒代谢物,尼古丁胺胺氨基二核酸水合物 (NAD(P) HX) 积累起来. 这可能导致渐进性脑病变,这种情况在患有NAXD基因变异的患者中观察到.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 神经学 神经学
背景情况:
- 代谢途径产生副产品,有些是有毒的,比如尼古丁胺胺氨基二核酸酸盐水合物 (NAD(P) HX).
- 在发烧或感染等压力因素期间产生NAD(P) HX.
- 尼古丁胺氨酸二核酸酸酸盐脱水酶 (NAXD) 和表皮酶 (NAXE) 酶对于分解NAD至关重要.
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