Development of a kit for urine collection on filter paper as an alternative for Pompe disease screening and monitoring by LC-HRMS

被引:2
作者
de Souza, Hygor M. R. [1 ,3 ]
Scalco, Fernanda B. B. [2 ]
Garrett, Rafael [1 ]
Marques, Flavia F. de C. [3 ]
机构
[1] Fed Univ Rio Janeiro, Inst Chem, Metabol Lab, BR-21941598 Rio De Janeiro, RJ, Brazil
[2] Fed Univ Rio Janeiro, Inst Chem, Inborn Error Metab Lab, BR-21941598 Rio De Janeiro, RJ, Brazil
[3] Fluminense Fed Univ, Inst Chem, Dept Analyt Chem, Lab Fundamental & Appl Analyt Chem, BR-24020141 Niteroi, RJ, Brazil
关键词
ENZYME REPLACEMENT THERAPY; GLUCOSE TETRASACCHARIDE; DISORDERS; DIAGNOSIS; BIOMARKER;
D O I
10.1039/d3ay00587a
中图分类号
O65 [分析化学];
学科分类号
070302 ; 081704 ;
摘要
Pompe disease (PD) is an inborn error of metabolism caused by & alpha;-glucosidase acid enzyme deficiency. It significantly impacts patients' health and life quality and may lead to death in the first few years of life. Among the well-established diagnostic methods, urinary glucose tetrasaccharide (Glc(4)) screening by high performance-liquid chromatography has been helpful in monitoring Glc(4) levels in patients on enzyme replacement therapy, demonstrating therapy efficacy. However, the specimen shipping process from a sample collecting location to a specialized laboratory for monitoring the Glc(4) is costly and presents preanalytical challenges. In this work, we developed a filter paper based-urine collection kit to facilitate specimen shipment, and liquid chromatography coupled with high-resolution mass spectrometry (LC-HRMS) analysis to determine Glc(4) and creatinine in dried urine on filter paper. The LC-HRMS was based on a combination of targeted and untargeted screening on the same specimen injection and was successfully developed and validated. Bland-Altman statistics revealed a good relationship between dried and liquid urine samples and Glc(4) and creatinine. Glc(4) and other metabolites in dried urine showed stability for at least 7 days at 4 and 22 & DEG;C, and 3 days at 50 & DEG;C. The stability of the analytes and the efficiency of the kit were tested simulating real conditions by sending it by post. After two days in transit without refrigeration, the stability of compounds was maintained, showing the reliability of the urine collection kit and analysis method to determine the PD biomarker Glc(4).
引用
收藏
页码:3932 / 3939
页数:9
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