Validation of plasma amino acid profile using UHPLC-mass spectrometer (QDa) as a screening method in a metabolic disorders reference centre: Performance and accreditation concerns

Amino acid (AA) analysis in plasma is essential for diagnosis and monitoring of inborn errors metabolism (IEM). The efficacy patient management governed by the rapidity AA profile availability, along with robustness method. French quality guidelines progress made analytical techniques have led biologists to develop exploration via mass spectrometry (MS). aim this study was validate an method a single quadrupole spectrometer (MS) suggest reference values regard IEM society recommendations. Plasma samples from patients were deproteinised derivatised AccqTag™ reagent. Analysis performed reverse-phase chromatography coupled QDA detector. We evaluated accuracy, intra-days inter-days precision limit quantification β-expectation tolerance interval 27 AA. Method comparison standard (ion exchange chromatography, IEC) on Jeol Aminotac® tandem MS. Reference established concentrations cohort who had no IEM. Our allowed separations almost all amino acids total run time 12 min. Separation isoleucine alloisoleucine incomplete (R = 0.55) but without impact biological interpretation. Precision, accuracy satisfactory (intra-days coefficient variation (CV) <5%, CV <10% <15%). limits validated between 1 900 µmol/L. Results comparable new IEC. Ultimately, we rapid quantifying that can be used routine practice, according laboratories SFEIM (French Society Inborn Error Metabolism) Furthermore, estimated similar those found published studies focusing other methods. Despite lower specificity compared MS, simplicity our are main advantage technique place it as major tool management.