代谢先天错误的非向代谢学:开发和评估可持续的参考材料,以纠正批次间的变化
Rafael Garrett1,2, Adam S Ptolemy1, Sara Pickett1
1Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
一种新的矩阵匹配的参考材料 (RM) 有效地减少了对代谢先天错误 (IEM) 查的非向代谢学的批次间变异性. 这种可持续的解决方案可以提高临床实验室的诊断准确性.
科学领域:
- 临床化学 临床化学
- 代谢学 代谢学 代谢学
- 质谱测量质量谱测量
背景情况:
- 未定位的代谢学显示出对诊断代谢的先天性错误 (IEMs) 的希望.
- 跨批量变异性是临床实施非向代谢学的一个重大挑战.
- 现有的规范化技术在解决这种变异性方面存在局限性.
研究的目的:
- 开发和验证可持续的,与矩阵匹配的参考材料 (RM) 来纠正批次间的变化.
- 提高在临床环境中用于IEM查的非向代谢物质的可靠性.
主要方法:
- 使用代批量平均化方法 (IBAT) 与聚合的等离子体样本开发了一个矩阵匹配的RM.
- 与传统样本池相比,评估了RM稳定性和代谢物随时间的变化.
- 评估了RM在纠正实验组间变异性方面的有效性,使用患者血中的基尿症 (PKU).
主要成果:
- 与单个批次或标本相比,RM在时间上的代谢物变异性明显较低.
- 12周的氨基酸度的平均变化在RM (8.8%CV) 与样本池 (24.6%CV) 相比大幅减少.
- RM正常化使PKU患者的准确分类成为可能,最大限度地减少了查中的批次间变化.
结论:
- 开发的RM有效地最大限度地降低了非目标代谢学中的批次间变异性.
- 这种实用和可持续的RM显示出在临床实验室中常规IEM查的巨大潜力.
- 对于非目标代谢学应用,RM提供了可靠的数据规范化解决方案.
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