基于代谢学和机器学习的代谢学概况和预测,在正常的肝功能下,素缺乏的代谢失败和勃发展的预测
Peiyao Wang1, Duo Zhou1, Lingwei Hu1
1Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No. 3333 Binsheng Road, Binjiang District, Hangzhou City, Zhejiang Province, 310052, China.
Nutrition & metabolism
|May 12, 2025
概括
由素缺乏症 (NICCD后) 引起的新生儿后肝内胆固醇症患者的代谢概况仍然有所改变,即使在临床康复后也是如此. 使用 kynurenine, arginine, alanine 和 aspartate 的预测模型准确地识别了这些患者的成长失败 (FTT).
科学领域:
- 生物化学 生物化学
- 代谢学 代谢学 代谢学
- 儿科胃肠病学 儿科胃肠病学
背景情况:
- 新生儿肝内胆固醇症是由素缺乏引起的 (NICCD) 是一种罕见的遗传疾病,影响肝功能.
- 虽然临床和生化标志物有所改善,但在NICCD后阶段,残留的代谢变化仍然存在.
- 发育不良 (FTT) 是从NICCD中康复的儿童的一个重大问题,需要有效的诊断工具.
研究的目的:
- 为了调查代谢途径的干扰,并确定后NICCD患者的残留代谢物.
- 开发和验证使用特定代谢物生物标志物的NICCD后患者FTT的预测模型.
- 提高对NICCD的长期代谢后果的理解.
主要方法:
- 一项涉及NICCD和NICCD后患者和匹配对照的病例控制研究.
- 使用液体染色学-并联质谱的代谢分析来测量氨基酸,甲酸,有机酸和自由脂肪酸.
- 包括拉索回归和随机森林在内的统计分析,用于生物标记物识别和基于名录的预测模型开发,并进行内部验证.
主要成果:
- 在NICCD后的患者中,不和脂肪酸的生物合成发生了显著的改变.
- 在NICCD和NICCD后阶段,有12种残留代谢物被确定为改变的.
- 使用kynurenine, arginine, alanine和aspartate的预测模型在FTT预测中获得了0.947的AUC.
结论:
- 在NICCD后的患者表现出不完全的代谢恢复,尽管临床恢复.
- 已识别的代谢物生物标志物为NICCD后患者的FTT检测提供了强大的,非侵入性的方法.
- 这项研究为NICCD的代谢后续提供了宝贵的见解,并有助于管理长期患者的结果.
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