在新生儿查中,高C5-OH检测到的无症状的3-甲基谷酸性尿症1型
Tomoyo Itonaga1, Miwako Maeda1, Hiroshi Koga2
1Department of Pediatrics, Oita University Faculty of Medicine, 1-1 Idaigaoka, Hasama, Yufu, Oita 879-5593, Japan.
Molecular genetics and metabolism reports
|December 11, 2023
概括
新生儿查发现了一名女孩的3 - 甲基葡萄糖酸性尿症1型 (MGCA1). 通过高C5-OH水平和新型AUH基因变异的早期检测显示,在没有特殊治疗的情况下,正常发育,这表明可能出现较温和的结果.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 3-甲基谷氨酸尿1型 (MGCA1) 是一种遗传性代谢障碍,影响白氨酸的分解.
- AUH基因中的致病变体是MGCA1.1的已知原因.
- 新生儿查 (NBS) 可以通过升高的C5-OH水平检测MGCA1.
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