运动诱导的年轻人的肌肉衰弱:麦克阿德尔病不寻常的呈现
Hira Kalsoom1, Haseeb Mukhtar1, Rizwana Kitchlew Latif1
1Combined Military Hospital, Lahore Medical College, Lahore, Pakistan.
JPMA. The Journal of the Pakistan Medical Association
|December 12, 2023
概括
麦克阿德尔病是一种罕见的遗传性疾病,导致肌肉糖原的积累. 这个案例突出了一个成年人表现的运动不耐受和肌肉疼痛,强调诊断考虑.
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:
- 麦克阿德尔病 (糖原储存疾病V型) 是一种罕见的遗传性自体逆向性疾病.
- 它源于糖原酸化酶 (PYGM) 酶的缺陷,导致糖原在骨肌肉中积累.
关键词:
糖原储存疾病V类型,肌红蛋白尿.相关概念视频
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