Biochemistry and Molecular Genetics Department, 571524 Hospital Clínic de Barcelona , Barcelona, Spain.
Clinical Biochemistry Department, 16512 Institut de Recerca Sant Joan de Déu , Barcelona, Spain.
Clin Chem Lab Med. 2024 Mar 11;62(10):1991-2000. doi: 10.1515/cclm-2023-1291. Print 2024 Sep 25.
Early diagnosis of inborn errors of metabolism (IEM) is crucial to ensure early detection of conditions which are treatable. This study reports on targeted metabolomic procedures for the diagnosis of IEM of amino acids, acylcarnitines, creatine/guanidinoacetate, purines/pyrimidines and oligosaccharides, and describes its validation through external quality assessment schemes (EQA).
Analysis was performed on a Waters ACQUITY UPLC H-class system coupled to a Waters Xevo triple-quadrupole (TQD) mass spectrometer, operating in both positive and negative electrospray ionization mode. Chromatographic separation was performed on a CORTECS C18 column (2.1 × 150, 1.6 µm). Data were collected by multiple reaction monitoring.
The internal and EQA results were generally adequate, with a few exceptions. We calculated the relative measurement error (RME) and only a few metabolites displayed a RME higher than 30 % (asparagine and some acylcarnitine species). For oligosaccharides, semi-quantitative analysis of an educational panel clearly identified the 8 different diseases included.
Overall, we have validated our analytical system through an external quality control assessment. This validation will contribute to harmonization between laboratories, thus improving identification and management of patients with IEM.
早期诊断先天性代谢缺陷（IEM）对于及时发现可治疗的疾病至关重要。本研究报告了用于诊断氨基酸、酰基肉碱、肌酸/胍基乙酸盐、嘌呤/嘧啶和寡糖的 IEM 的靶向代谢组学程序，并通过外部质量评估计划（EQA）描述了其验证情况。
在沃特世 ACQUITY UPLC H 类系统上进行分析，该系统与沃特世 Xevo 三重四极杆（TQD）质谱仪耦合，分别在正、负离子喷雾模式下运行。色谱分离在 CORTECS C18 柱（2.1×150,1.6 µm）上进行。通过多反应监测收集数据。
内部和 EQA 结果通常是足够的，但也有一些例外。我们计算了相对测量误差（RME），只有少数代谢物的 RME 高于 30%（天冬酰胺和一些酰基肉碱）。对于寡糖，教育面板的半定量分析清楚地确定了包含的 8 种不同疾病。
总的来说，我们通过外部质量控制评估验证了我们的分析系统。该验证将有助于实验室之间的协调，从而提高 IEM 患者的识别和管理水平。
