越南患者的高ornithinemia-Hyperammonemia-Homocitrullinuria综合征 在越南患者中的高ornithinemia-Hyperammonemia-Homocitrullinuria综合征
Khanh Ngoc Nguyen1,2, Van Khanh Tran3, Ngoc Lan Nguyen3
1Center of Endocrinology, Metabolism, Genetic/Genomics and Molecular Therapy, Vietnam National Children's Hospital, 18/879 La Thanh, Dong Da, Hanoi 11512, Vietnam.
Medicina (Kaunas, Lithuania)
|November 27, 2024
概括
过高ornithinemia-hyperammonemia-homocitrullinuria综合征 (HHH) 是一种罕见的尿素循环障碍. 对SLC25A15基因的基因分析对于诊断HHH至关重要,HHH呈现出各种症状和生化标志物.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 过高ornithinemia-hyperammonemia-homocitrullinuria综合征 (HHH) 是一种罕见的遗传尿素循环障碍.
- 它是由于甲素载体1的缺乏造成的,损害了线粒体甲素的吸收,导致高氨血和氨基酸积累.
- 临床表现和诊断时间对于HHH综合征是高度可变的.
研究的目的:
- 分析诊断出HHH综合征的四名越南儿童的临床和遗传特征.
- 在这个人群中识别与HHH相关的SLC25A15基因中的致病变体.
- 突出HHH的诊断挑战和治疗结果.
主要方法:
- 对四名患有HHH综合征的越南儿童进行了回顾性和前性分析.
- 生物化学评估包括氨,甲,素和肝功能测试.
- 基因分析以确定SLC25A15基因中的变异.
主要成果:
- 诊断年龄从10天到46个月,显示出显著的异质性.
- 所有病例都表现出高ornithinemia和延长的前激素时间;三人患有高氨血和升高的转氨基酶.
- 确定了三种致病性SLC25A15变种,包括一种常见的越南变种 (c.535C>T) 和一种新型变种 (c.408del).
结论:
- HHH综合征表现出相当大的临床和生化变异性.
- 在患有高氨血症,高转氨基酶和延长前列血时间的患者中考虑HHH.
- 通过饮食变化和L-卡尼丁正常化代谢参数的有效管理.
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