Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation
Fig 3
LC-MS/MS chromatograms of A: the Cal06 calibrator (16 μM) and urine specimens from B: a healthy proband; C: a patient with ADSL deficiency; D: a patient with HGPRT deficiency; E: a patient with UPB1 deficiency; and F: a patient with APRT deficiency. All intensities (Y-axes) have been normalized to 1.5*108 cps for better comparability and have been plotted against retention time (X-axes). Analytes have been numbered as follows: 1. URA; 2. DHU; 3. Thy; 4. DHT; 5. BUP; 6. ADN; 7. Hypo; 8. ALLOP; 9. BUIB; 10. Xan; 11. DHA; 12. dAdo; 13. AICAr; 14. ADS; 15. HMU; 16. Oro; 17. dUrd; 18. THD; 19. PSU; 20. dIno; 21. dGui; 22. Ino; 23. Guo; 24. Ord; 25. SAICAr; 26. SAdo. The ISs have been marked by an asterisk (*) after the number of the respective unlabeled analyte. Note that guanosine-IS has been measured in both ESI+ and ESI-. ADSL: Adenylosuccinate lyase deficiency; HGPRT: Hypoxanthine-guanine phosphoribosyltransferase deficiency; UPB1: beta-Ureidopropionase deficiency; APRT: Adenine phosphoribosyltransferase deficiency. Further abbreviations are provided in the List of Abbreviations Section. Chromatograms were generated by MassLynx 4.1 (Waters, Milford, MA, USA) and modified using Inkscape 0.91pre4 (Open Source Software licensed under the GNU General Public License).