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  • Title: Quantitative UPLC-MS/MS analysis of underivatised amino acids in body fluids is a reliable tool for the diagnosis and follow-up of patients with inborn errors of metabolism.
    Author: Waterval WA, Scheijen JL, Ortmans-Ploemen MM, Habets-van der Poel CD, Bierau J.
    Journal: Clin Chim Acta; 2009 Sep; 407(1-2):36-42. PubMed ID: 19559691.
    Abstract:
    BACKGROUND: An electro-spray ionisation ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) application for the quantitative analysis of amino acids was developed. The suitability for the detection and follow-up of patients suffering from inborn errors of metabolism (IEM) was assessed by extensive cross-validation with ion-exchange liquid chromatography (IEX-LC) with post-column ninhydrin derivatisation, participation in external quality control (ERNDIM) and analysis of samples of patients with confirmed IEM. METHODS: Prior to analysis plasma and urine samples were merely diluted 150-fold in mobile phase. Amino acids were detected in the multiple reaction monitoring mode (MRM) in the ESI-positive mode. The analytical results were compared with IEX-LC. External quality control scheme performance is presented. RESULTS: Comprehensive analysis of amino acids in plasma and urine was achieved with a run-to-run time of 30min. Validation results were satisfactory and there was a very good correlation between UPLC-MS/MS and IEX-LC. Analytical results obtained in the external quality control scheme were essentially the same as those of the other participants. Patients suffering from IEM were readily identified. CONCLUSION: UPLC-MS/MS analysis of amino acids in body fluids is rapid, reliable and suitable for the diagnosis and follow-up patients with IEM.
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