一项为期一年的试点研究,将基于直接输液高分辨率质谱的非向代谢学与针对遗传代谢疾病的位诊断查进行比较
Anke P Willems1, Maria van der Ham1, Birgit G M Schiebergen-Bronkhorst1
1Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
Frontiers in molecular biosciences
|November 29, 2023
概括
使用直接输液高分辨率质谱仪 (DI-HRMS) 的非向代谢学表明,早期遗传代谢疾病 (IMD) 诊断具有前途. 这种方法可以取代有针对性的测试,并识别新的生物标志物,以改善患者的治疗结果.
科学领域:
- 临床诊断 临床诊断 临床诊断
- 代谢学 代谢学 代谢学
- 质谱测量质量谱测量
背景情况:
- 遗传代谢性疾病 (IMD) 的早期诊断对于降低死亡率和改善预后至关重要.
- IMDs的多样性带来了诊断挑战,需要全面的代谢物分析.
- 非向代谢学对IMD诊断具有临床潜力,但在遗传实验室中未得到充分利用.
研究的目的:
- 通过直接输液高分辨率质谱法 (DI-HRMS) 评估血非向代谢物的临床效用.
- 为了比较非向代谢物质的性能与传统的向代谢物质测定在诊断IMDs.
- 评估DI-HRMS用于识别IMD诊断中的新生物标志物.
主要方法:
- 对比DI-HRMS非向代谢与向测定,使用793名患者的血样本超过一年.
- 对极性代谢物 (氨基酸, (乙) 卡尼丁,肌酸) 的集中非定向数据进行直接比较.
- 分析了两种诊断方法的定量数据和定性性能.
主要成果:
- 针对大多数代谢物的度和DI-HRMS半定量Z分数之间观察到强烈的相关性.
- DI-HRMS证实了通过向测定确定的64名患者中55名患者的异常代谢物概况.
- DI-HRMS检测到额外的IMD,包括 purin/pyrimidine和carnitine合成障碍,被目标分析遗漏.
结论:
- DI-HRMS非向代谢学可以作为一种主要的诊断方法,可能取代氨基酸, (乙) 卡尼丁和肌酸的向测试.
- 这种方法为IMD诊断和发现新生物标志物的扩大了能力.
- 一项为期一年的试点研究证明了DI-HRMS在临床诊断环境中的可行性和潜力.
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