Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria

Clinica Chimica Acta

Volumn 437, Issue , 2014, Pages 211-217

  Bártl, Josef ^a   Chrastina, Petr ^a   Krijt, Jakub ^a   Hodík, Jakub ^a   Pešková, Karolína ^a   Kožich, Viktor ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

Author keywords

Cystathionine; Dried blood spots; Homocysteine; LC MS MS; Methionine; Therapy monitoring

Indexed keywords

CYSTATHIONINE; DITHIOTHREITOL; FORMIC ACID; HOMOCYSTEINE; METHANOL; METHIONINE;

ADOLESCENT; AMINO ACID BLOOD LEVEL; ANALYTIC METHOD; ARTICLE; CHILD; CONTROLLED STUDY; DESULFURIZATION; DIAGNOSTIC PROCEDURE; DRIED BLOOD SPOT TESTING; ENZYME DEFECT; ERYTHROCYTE; HOMOCYSTINURIA; HUMAN; LIMIT OF DETECTION; LIMIT OF QUANTITATION; LIQUID CHROMATOGRAPHY; MAJOR CLINICAL STUDY; METHYLATION; NEWBORN; PATIENT MONITORING; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY; BLOOD; COMPARATIVE STUDY; DISEASE MANAGEMENT; FEMALE; INFANT; MALE; PRESCHOOL CHILD; PROCEDURES; RANDOMIZED CONTROLLED TRIAL; UTILIZATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, LIQUID; CYSTATHIONINE; DISEASE MANAGEMENT; DRIED BLOOD SPOT TESTING; FEMALE; HOMOCYSTEINE; HOMOCYSTINURIA; HUMANS; INFANT; INFANT, NEWBORN; MALE; METHIONINE; TANDEM MASS SPECTROMETRY;

EID: 84907321981     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2014.07.028     Document Type: Article

References (32)

1. Janosik M., Sokolova J., Janosikova B., Krijt J., Klatovska V., Kozich V. Birth prevalence of homocystinuria in central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene. J Pediatr 2009, 154:431-437.
2. Stabler S.P., Korson M., Jethva R., et al. Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family. JIMD Rep 2013, 11:149-163.
3. Naughten E.R., Yap S., Mayne P.D. Newborn screening for homocystinuria: Irish and world experience. Eur J Pediatr 1998, 157:84-87.
4. Mudd S.H., Levy H.L., Kraus J.P. Disorders of transsulfuration. The metabolic and molecular bases of inherited disease 2001, 2007-2057. McGraw-Hill, New York. C. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
5. Schiff M., Benoist J.F., Tilea B., Royer N., Giraudier S., Ogier de Baulny H. Isolated remethylation disorders: do our treatments benefit patients?. J Inherit Metab Dis 2011, 34:137-145.
6. Yap S., Boers G.H., Wilcken B., et al. Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study. Arterioscler Thromb Vasc Biol 2001, 21:2080-2085.
7. Yap S., Rushe H., Howard P.M., Naughten E.R. The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis 2001, 24:437-447.
8. Peterschmitt M.J., Simmons J.R., Levy H.L. Reduction of false negative results in screening of newborns for homocystinuria. N Engl J Med 1999, 341:1572-1576.
9. ten Hoedt A.E., van Kempen A.A., Boelen A., et al. High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme. J Inherit Metab Dis 2007, 30:978.
10. Gan-Schreier H., Kebbewar M., Fang-Hoffmann J., et al. Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. J Pediatr 2010, 156:427-432.
11. Matern D., Tortorelli S., Oglesbee D., Gavrilov D., Rinaldo P. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007). J Inherit Metab Dis 2007, 30:585-592.
12. Chamoles N.A., Blanco M.B., Gaggioli D., Casentini C. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Clin Chem 2001, 47:2098-2102.
13. Chace D.H., Hillman S.L., Millington D.S., Kahler S.G., Adam B.W., Levy H.L. Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry. Clin Chem 1996, 42:349-355.
14. Gempel K., Gerbitz K.D., Casetta B., Bauer M.F. Rapid determination of total homocysteine in blood spots by liquid chromatography-electrospray ionization-tandem mass spectrometry. Clin Chem 2000, 46:122-123.
15. McCann S.J., Gillingwater S., Keevil B.G., Cooper D.P., Morris M.R. Measurement of total homocysteine in plasma and blood spots using liquid chromatography-tandem mass spectrometry: comparison with the plasma Abbott IMx method. Ann Clin Biochem 2003, 40:161-165.
16. Turgeon C.T., Magera M.J., Cuthbert C.D., et al. Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem 2010, 56:1686-1695.
17. Alodaib A.N., Carpenter K., Wiley V., Wotton T., Christodoulou J., Wilcken B. Homocysteine measurement in dried blood spot for neonatal detection of homocystinurias. JIMD Rep 2012, 5:1-6.
18. Hyanek J. Dědičné metabolické poruchy 1991, Avicenum, Praha.
19. Krijt J., Kopecka J., Hnizda A., et al. Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency. J Inherit Metab Dis 2011, 34:49-55.
20. Annesley T.M. Ion suppression in mass spectrometry. Clin Chem 2003, 49:1041-1044.
21. Lepage N., McDonald N., Dallaire L., Lambert M. Age-specific distribution of plasma amino acid concentrations in a healthy pediatric population. Clin Chem 1997, 43:2397-2402.
22. Vilaseca M.A., Moyano D., Ferrer I., Artuch R. Total homocysteine in pediatric patients. Clin Chem 1997, 43:690-692.
23. Refsum H., Grindflek A.W., Ueland P.M., et al. Screening for serum total homocysteine in newborn children. Clin Chem 2004, 50:1769-1784.
24. Obeid R., Munz W., Jager M., Schmidt W., Herrmann W. Biochemical indexes of the B vitamins in cord serum are predicted by maternal B vitamin status. Am J Clin Nutr 2005, 82:133-139.
25. Stabler S.P., Lindenbaum J., Savage D.G., Allen R.H. Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency. Blood 1993, 81:3404-3413.
26. Weaving G., Rocks B.F., Iversen S.A., Titheradge M.A. Simultaneous quantitation of homocysteine, cysteine and methionine in plasma and urine by liquid chromatography-tandem mass spectrometry. Ann Clin Biochem 2006, 43:474-480.
27. Rafii M., Elango R., House J.D., et al. Measurement of homocysteine and related metabolites in human plasma and urine by liquid chromatography electrospray tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 2009, 877:3282-3291.
28. Fu X., Xu Y.K., Chan P., Pattengale P.K. Simple, fast, and simultaneous detection of plasma total homocysteine, methylmalonic acid, methionine, and 2-methylcitric acid using liquid chromatography and mass spectrometry (LC/MS/MS). JIMD Rep 2013, 10:69-78.
29. Proenza A.M., Palou A., Roca P. Amino acid distribution in human blood. A significant pool of amino acids is adsorbed onto blood cell membranes. Biochem Mol Biol Int 1994, 34:971-982.
30. Bowron A., Barton A., Scott J., Stansbie D. Blood spot homocysteine: a feasibility and stability study. Clin Chem 2005, 51:257-258.
31. Scott C.R., Elliot S., Buroker N., et al. Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. J Pediatr 2013, 163:498-503.
32. Castilhos C.D., Mezzalira J., Goldim M.P., et al. Determination of the lysosomal hydrolase activity in blood collected on filter paper, an alternative to screen high risk populations. Gene 2014, 536:344-347.