皮质甲基氧化酶1型 (CMO1) 缺乏由于CYP11B2突变:两个病例报告
Saad Ur Rehman1, Sommayya Aftab2,3, Aamir Naseem2
1Department of Paediatrics and Neonatology, Hameed Latif Hospital, Lahore, PAK.
Cureus
|June 19, 2023
概括
阿尔多氨酸合成酶缺乏症 (ASD) 是一种罕见的遗传疾病. 早期诊断和弗鲁德科尔提松治疗对于婴儿出现发育不良,低血症和高血症至关重要.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 阿尔多氨酸合成酶缺乏症 (ASD) 是一种罕见的自体衰退性疾病,由CYP11B2基因的失活突变引起.
- 它表现为皮质甲基氧化酶1型 (CMO1) 或2型 (CMO2) 缺乏,影响阿尔多的合成.
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