感官神经病变作为多重乙辅酶A脱原酶缺乏症的表现
Jessica N Harding1, Nika Mohannak2, Zoya Georgieva3
1University of Cambridge School of Clinical Medicine, Cambridge, UK jh2215@cam.ac.uk.
BMJ case reports
|March 15, 2024
概括
多重乙辅酶甲脱酶缺乏症 (MADD) 是一种罕见的代谢障碍,经常呈现异常. 通过代谢测试和利博弗拉治疗进行早期诊断,可以逆转肌肉病和脱补偿等症状.
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:
- 多重乙辅酶甲脱酶缺乏症 (MADD) 是一种罕见的遗传代谢障碍.
- 它通常表现为肌肉软弱,但晚发的形式表现出各种症状.
- 由于异质的临床表现,延迟诊断是常见的.
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