A rapid ultra performance liquid chromatography tandem mass spectrometric method for measuring amino acids associated with maple syrup urine disease, tyrosinaemia and phenylketonuria

Ann Clin Biochem 2007;44:474-481
© 2007 Association for Clinical Biochemistry


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Original Articles

Scott Freeto,
Donald Mason,
Jie Chen,
Robert H Scott,
Srinivas B Narayan and
Michael J Bennett

Waters Corporation, Milford, MA, USA;
Metabolic Disease Laboratory, Department of Pathology & Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, 34th Street and Civic Center Blvd, Philadelphia, PA 19104, USA

Background: Patients with inherited disorders of amino acidmetabolism including maple syrup urine disease, tyrosinaemiaand phenylketonuria on dietary management require frequent monitoringof disease-relevant plasma amino acids in order to optimizetherapeutic benefit. Poorly controlled maple syrup urine diseasein particular may result in catastrophic metabolic decompensation.Most methods for monitoring amino acid concentrations are time-consumingand have clinically impractical turnaround times, particularlywhen the required time to run standards and control samplesis taken into account.

Methods: We have analysed plasma amino acids using standard ion-exchange chromatography with ninhydrin detection in an amino acid analyser and compared the data with that obtained for the same samples using ultra-performance liquid chromatography (UPLCTM)separation with detection by tandem mass spectrometry.

Results: The two methodologies compared very well for the measurementof six important amino acids with correlation coefficients greaterthan 0.96 for all. The time for sample preparation was longerfor the UPLC methodology as batched derivatization and evaporationis required but UPLC-tandem mass spectrometry generated sampleresults every 8 min while conventional ion-exchange chromatographytook almost 1 h per sample.

Conclusion: UPLC-tandem mass spectrometry generates data thatcompares well with existing ‘gold standard’ methodologies butsignificantly reduces sample turnaround time. Decreasing theturnaround time for amino acid analyses is very likely to improveclinical care for patients with amino acid disorders as dietaryadjustments can be made sooner.

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