Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes

Author:

Oliva Clara1,Arias Angela2,Ruiz-Sala Pedro34,Garcia-Villoria Judit135,Carling Rachel6ORCID,Bierau Jörgen78,Ruijter George J. G.9,Casado Mercedes23,Ormazabal Aida23,Artuch Rafael23

Affiliation:

1. Biochemistry and Molecular Genetics Department , 571524 Hospital Clínic de Barcelona , Barcelona , Spain

2. Clinical Biochemistry Department , 16512 Institut de Recerca Sant Joan de Déu , Barcelona , Spain

3. Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III , Madrid , Spain

4. Centro de Diagnóstico de Enfermedades Moleculares , Universidad Autónoma de Madrid, IdIPAZ , Madrid , Spain

5. Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) , Barcelona , Spain

6. Department of Biochemical Sciences , 8945 Synnovis, Guy’s & St Thomas’ NHSFT , London , UK

7. Department of Clinical Genetics , 570888 Maastricht University Medical Center , Maastricht , The Netherlands

8. Department of Clinical Genetics , Erasmus Medical Center , Rotterdam , The Netherlands

9. Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics , Erasmus University Medical Center , Rotterdam , The Netherlands

Abstract

Abstract Objectives 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). Methods 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. Results 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. Conclusions 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.

Publisher

Walter de Gruyter GmbH

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