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

Clinica Chimica Acta

Volumn 407, Issue 1-2, 2009, Pages 36-42

  Waterval, W A Huub ^a   Scheijen, Jean L J M ^a   Ortmans Ploemen, Marjon M J C ^a   Habets van der Poel, Catharina D ^a   Bierau, Jörgen ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Amino acids; Inborn errors of metabolism; LC MS MS; Ninhydrin detection; Tandem mass spectrometry; Validation

Indexed keywords

4 HYDROXYPHENYLPYRUVATE DIOXYGENASE INHIBITOR; AMINO ACID DERIVATIVE; CARNITINE; GLYCINE; NINHYDRIN; OXYGENASE INHIBITOR; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; AMINO ACID URINE LEVEL; ARTICLE; BODY FLUID; CHILD; CONTROLLED STUDY; DERIVATIZATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DIET THERAPY; DILUTION; ELECTROSPRAY MASS SPECTROMETRY; FEMALE; FOLLOW UP; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; INFANT; INTERMETHOD COMPARISON; ION EXCHANGE CHROMATOGRAPHY; MAJOR CLINICAL STUDY; MALE; MAPLE SYRUP URINE DISEASE; PRIORITY JOURNAL; PROTEIN RESTRICTION; QUALITY CONTROL; QUANTITATIVE ANALYSIS; RELIABILITY; REPRODUCIBILITY; TANDEM MASS SPECTROMETRY; TYROSINEMIA; VALIDATION PROCESS;

ADOLESCENT; ADULT; AMINO ACIDS; ANALYTIC SAMPLE PREPARATION METHODS; BLOOD CHEMICAL ANALYSIS; BODY FLUIDS; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; LINEAR MODELS; MALE; METABOLISM, INBORN ERRORS; MIDDLE AGED; QUALITY CONTROL; REPRODUCIBILITY OF RESULTS; TANDEM MASS SPECTROMETRY; URINALYSIS;

EID: 67651092007     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2009.06.023     Document Type: Article

References (20)

1. Spackman D.H., Stein W.H., and Moore S. Automatic recording apparatus for use in chromatography of amino acids. Anal Chem 30 (1958) 1190-1206
2. Ho C., Lam C., Chan M., et al. Electrospray ionisation mass spectrometry: principles and clinical applications. Clin Biochem Rev 24 (2003) 3-12
3. King R., Bonfiglio R., Fernandez-Metzler C., Miller-Stein C., and Olah T. Mechanistic investigation of ionization suppression in electrospray ionization. J Am Soc Mass Spectrom 11 (2000) 942-950
4. Matuszewski B.K., Constanzer M.L., and Chavez-Eng C.M. Matrix effect in quantitative LC/MS/MS analyses of biological fluids: a method for determination of finasteride in human plasma at picogram per milliliter concentrations. Anal Chem 70 (1998) 882-889
5. Plumb R., Castro-Perez J., Granger J., et al. Ultra-performance liquid chromatography coupled to quadrupole-orthogonal time-of-flight mass spectrometry. Rapid Commun Mass Spectrom 18 (2004) 2331-2337
6. Wren S.A. Peak capacity in gradient ultra performance liquid chromatography (UPLC). J Pharm Biomed Anal 38 (2005) 337-343
7. Millington D. Tandem mass spectrometry in clinical diagnosis. In: Gibson M. (Ed). Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. 2 ed (2005), Springer-Verlag 57-75
8. Rashed M.S., Bucknall M.P., Little D., et al. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem 43 (1997) 1129-1141
9. Rinaldo P., Cowan T.M., and Matern D. Acylcarnitine profile analysis. Genet Med 10 (2008) 151-156
10. Ito T., van Kuilenburg A.B., Bootsma A.H., et al. The application of HPLC/ESI tandem mass spectrometry on urine-soaked filter-paper strips for the screening of disorders of purine and pyrimidine metabolism. J Inherit Metab Dis 23 (2000) 434-437
11. Ito T., van Kuilenburg A.B., Bootsma A.H., et al. Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips. Clin Chem 46 (2000) 445-452
12. Liu D.L., Beegle L.W., and Kanik I. Analysis of underivatized amino acids in geological samples using ion-pairing liquid chromatography and electrospray tandem mass spectrometry. Astrobiology 8 (2008) 229-241
13. Thiele B., Fullner K., Stein N., et al. Analysis of amino acids without derivatization in barley extracts by LC-MS-MS. Anal Bioanal Chem 391 (2008) 2663-2672
14. Piraud M., Vianey-Saban C., Bourdin C., et al. A new reversed-phase liquid chromatographic/tandem mass spectrometric method for analysis of underivatised amino acids: evaluation for the diagnosis and the management of inherited disorders of amino acid metabolism. Rapid Commun Mass Spectrom 19 (2005) 3287-3297
15. Piraud M., Vianey-Saban C., Petritis K., et al. Ion-pairing reversed-phase liquid chromatography/electrospray ionization mass spectrometric analysis of 76 underivatized amino acids of biological interest: a new tool for the diagnosis of inherited disorders of amino acid metabolism. Rapid Commun Mass Spectrom 19 (2005) 1587-1602
16. Piraud M., Vianey-Saban C., Petritis K., et al. ESI-MS/MS analysis of underivatised amino acids: a new tool for the diagnosis of inherited disorders of amino acid metabolism. Fragmentation study of 79 molecules of biological interest in positive and negative ionisation mode. Rapid Commun Mass Spectrom 17 (2003) 1297-1311
17. Bland J.M., and Altman D.G. Statistical methods for assessing agreement between two methods of clinical measurement. Lancet 1 (1986) 307-310
18. Fowler B., Burlina A., Kozich V., and Vianey-Saban C. Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM. J Inherit Metab Dis 31 (2008) 680-689
19. Przyrembel H. Disorders of ornithine, lysine and tryptophan. In: Blau N., Duran M., Blaskovics M.E., and Gibson K.M. (Eds). Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. 2nd ed (2005), Springer-Verlag 277-299
20. Sreekumar A., Poisson L.M., Rajendiran T.M., et al. Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature 457 (2009) 910-914