胺代谢功能障碍综合征5 (THMD5) 模仿急性扩散性脑膜炎
Zachary E Thompson1, Natalie K Boyd2, Mellad M Khoshnood2
1Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.
American journal of medical genetics. Part A
|August 17, 2023
概括
胺酸激酶1 (TPK1) 基因中的一种罕见的遗传变异导致了代谢障碍. 用胺和生物素治疗显著改善了神经行为症状,包括自闭症谱系障碍的特征.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
背景情况:
- 胺酸 (TPP) 是碳水化合物代谢中的关键辅因子,对神经系统功能至关重要.
- 胺代谢功能障碍综合征5 (THMD5) 是一种罕见的疾病,与TPK1基因中的致病变体有关.
- 神经系统对葡萄糖代谢的高度依赖使其易受TPP缺乏症的影响.
研究的目的:
- 报告TPK1基因中的新型致病变体.
- 描述THMD5.5患者的临床表现和治疗结果.
- 突出提氨酸和生物素在管理TPK1相关代谢缺陷方面的有效性.
主要方法:
- 基因检测用于识别TPK1基因中的致病变体.
- 在治疗前和治疗后对神经行为症状的临床评估.
- 监测患者对胺和生物补充剂的反应.
主要成果:
- 一个四岁的女孩在TPK1.1中呈现了一种以前未报告的化合物异合致病原体变异.
- 该患者表现出与THMD5一致的症状,包括急性传播性脑炎和自闭症谱系障碍特征.
- 用胺和生物素治疗导致临床状况和自闭症谱系障碍特征的解决显著改善.
结论:
- 该案证实TPK1的致病变体可以导致THMD5,具有显著的神经发育影响.
- 早期识别和干预胺和生物素对于改善TPK1相关代谢障碍的结果至关重要.
- 这一案例增加了证据,支持胺和生物素对TPK1缺陷的治疗疗效.
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