一个新的ornithine aminotransferase连接部位突变导致维生素B6响应的酸缩
Samira Molaei Ramshe1, Safoura Zardadi2, Elham Alehabib3
1Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Journal of ophthalmic & vision research
|April 19, 2024
概括
胸膜和视网膜的缩性缩 (GACR) 是一种罕见的遗传性疾病. 这项研究确定了一例对维生素B6有反应的病例,该病例在甲胺转移酶 (OAT) 基因中具有新型拼接突变.
科学领域:
- 眼科医生 眼科 眼科
- 医学遗传学 医学遗传学
- 生物化学 生化学
背景情况:
- 胸膜和视网膜的状缩 (GACR) 是一种罕见的遗传性疾病.
- 它是由甲胺转移酶 (OAT) 基因的突变引起的,导致甲胺水平升高.
- 目前的治疗方法包括低蛋白饮食,有时也会使用素 (维生素B6),尽管许多患者没有反应.
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