最初被标记为吉兰-巴雷综合征:具有挑战性的诊断
Hassan A Alayafi1, Talal K Aljumah1, Omar B Alluhayyan2
1Neurology, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Research Center, King Abdullah International Medical Research Centre, Riyadh, SAU.
Cureus
|December 14, 2023
概括
急性间歇性 (AIP) 是一种罕见的代谢障碍,影响血红素生物合成. 这个案例突出了它在接受试管婴儿的年轻女性中复杂的呈现,导致分娩后的神经复杂症.
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:
- 急性间歇性 (AIP) 是一种影响血红蛋白合成的遗传代谢障碍.
- 它的特点是血红素生物合成途径酶的缺陷.
- AIP呈现异质,使得及时诊断变得复杂.
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