神经性骨髓缩呈现急性间歇性形症:一个病例报告
Julian Theuriet1, Mathieu Gerfaud-Valentin2, Cécile-Audrey Durel2
1Service d'ENMG et de pathologies neuromusculaires, centre de référence des maladies neuromusculaires PACA-Réunion-Rhône-Alpes, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Groupement Est, Bron, France.
急性间歇性病 (AIP) 可以模仿神经性缩等神经系统疾病. 早期测试氨基和三角氨基酸对于准确诊断和治疗这种罕见的代谢障碍至关重要.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 神经学 神经学
背景情况:
- 毛孔病是影响血红蛋白合成的遗传代谢障碍.
- 急性肝脏孔水症 (AHP),包括AIP,可以表现为神经症状.
- AHP的神经表现往往被误诊为其他神经病变.
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