Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: Application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

Analytical Chemistry

Volumn 82, Issue 22, 2010, Pages 9587-9591

  Duffey, Trisha A ^a   Sadilek, Martin ^a   Scott, C Ronald ^b   Turecek, Frantisek ^a   Gelb, Michael H ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DRIED BLOOD SPOTS; EARLY DETECTION; ELECTROSPRAY TANDEM MASS SPECTROMETRY; HEALTHY INDIVIDUALS; HYDROPHOBIC RESIDUES; INTERNAL STANDARDS; LYSOSOMAL ENZYMES; NEWBORN SCREENING; SULFATASES; SYNTHETIC SUBSTRATES; TANDEM MASS SPECTROMETRY; WORK-FLOWS;

MASS SPECTROMETRY;

BLOOD;

N ACETYLGALACTOSAMINE 4 SULFATASE;

ARTICLE; BLOOD; BLOOD ANALYSIS; ENZYMOLOGY; HUMAN; LYSOSOME; MAROTEAUX LAMY SYNDROME; METABOLISM; METHODOLOGY; NEWBORN; NEWBORN SCREENING; PATHOLOGY; STANDARD; TANDEM MASS SPECTROMETRY;

BLOOD CHEMICAL ANALYSIS; HUMANS; INFANT, NEWBORN; LYSOSOMES; MUCOPOLYSACCHARIDOSIS VI; N-ACETYLGALACTOSAMINE-4-SULFATASE; NEONATAL SCREENING; REFERENCE STANDARDS; TANDEM MASS SPECTROMETRY;

EID: 78449270842     PISSN: 00032700     EISSN: None     Source Type: Journal    
DOI: 10.1021/ac102090v     Document Type: Article

References (27)

1. Neufeld, E. F. and Muenzer, J. The Mucopolysaccharidoses. In The Metabolic and Molecular Bases of Inherited Disease; Scriver, C., Beaudet, A., and Sly, W., Eds.; McGraw Hill: New York, 2001; pp 3421 - 3452.
2. O'Brien, J. F., Cantz, M., and Spranger, J. Biochem. Biophys. Res. Commun. 1974, 60, 1170-1177
3. Matalon, R., Arbogast, B., and Dorfman, A. Biochem. Biophys. Res. Commun. 1974, 61, 1450-1457
4. Litjens, T., Morris, P., Robertson, E. F., Peters, C., Von Figura, K., and Hopwood, J. J. Hum. Mutat. 1992, 1, 397-402
5. Litjens, T., Baker, E. G., Beckmann, K. R., Morris, C. P., Hopwood, J. J., and Callen, D. F. Hum. Genet. 1989, 82, 67-68
6. Peters, C., Schmidt, B., Rommerskirch, W., Rupp, K., Zuehlsdorf, M., Vingron, M., Meyer, H. E., Pohlmann, R., and Von Figura, K. J. Biol. Chem. 1990, 265, 3374-3381
7. Harmatz, P., Whitley, C. B., Waber, L., Pais, R., Steiner, R., Plecko, B., Kaplan, P., Simon, J., Butensky, E., and Hopwood, J. J. J. Pediatr. 2004, 144, 574-580
8. Harmatz, P., Giugliani, R., Schwartz, I. V. D., Guffon, N., Teles, E. L., Sa Miranda, M. C., Wraith, J. E., Beck, M., Arash, L., Scarpa, M., Ketteridge, D., Hopwood, J. J., Plecko, B., Steiner, R., Whitley, C. B., Kaplan, P., Yu, Z.-F., Swiedler, S. J., and Decker, C. Mol. Gen. Metabol. 2008, 94, 469-475
9. Chamoles, N. A., Blanco, M. B., Gaggioli, D., and Casentini, C. Clin. Chem. 2001, 47, 2098
10. Civallero, G., Michelin, K., de Mari, J., Viapiana, M., Burin, M., Coelho, J. C., and Giugliani, R. Clin. Chim. Acta 2006, 372, 98-102
11. Hopwood, J. J., Elliott, H., Muller, V. J., and Saccone, G. T. P. Biochem. J. 1986, 234, 507-514
12. Li, Y., Brockman, K., Turecek, F., Scott, C. R., and Gelb, M. H. Clin. Chem. 2004, 50, 638-640
13. Turecek, F., Gelb, M. H., and Scott, C. R. Tandem Mass Spectrometry in the Detection of Inborn Errors of Metabolism for Newborn Screening. In Methods in Molecular Biology; Secchi, S., Ed.; Humana Press: Totowa, NJ, 2007; Vol. 359 (Quantitative Proteomics by Mass Spectrometry), pp 143 - 157.
14. Li, Y., Scott, C. R., Chamoles, N. A., Ghavami, A., Pinto, B. M., Turecek, F., and Gelb, M. H. Clin. Chem. 2004, 50, 1785-1796
15. De Jesus, V. R., Zhang, X. K., Keutzer, J., Bodamer, O. A., Muhl, A., Orsini, J. J., Caggana, M., Vogt, R. F., and Hannon, W. H. Clin. Chem. 2009, 55, 158-164
16. Orsini, J. J., Morrissey, M. A., Slavin, L. N., Wojcik, M., Biski, C., Martin, M., Keutzer, J., Zhang, X. K., Chuang, W.-L., Elbin, C., and Caggana, M. Clin. Biochem. 2009, 42, 877-884
17. Marsden, D. and Levy, H. Clin. Chem. 2010, 56, 1071-1079
18. Dajnoki, A., Muehl, A., Fekete, G., Keutzer, J., Orsini, J. J., DeJesus, V., Zhang, X. K., and Bodamer, O. A. Clin. Chem. 2008, 54, 1624-1629
19. Hwu, W.-L., Chien, Y.-H., and Lee, N.-C. J. Inherit. Metabol. Dis. 2010, 33, 381-386
20. Gerber, S. A., Scott, C. R., Turecek, F., and Gelb, M. H. Anal. Chem. 2001, 73, 1651-1657
21. Blanchard, S., Sadilek, M., Scott, C. R., Turecek, F., and Gelb, M. H. Clin. Chem. 2008, 54, 2067-2070
22. Wang, D., Wood, T., Sadilek, M., Scott, C. R., Turecek, F., and Gelb, M. H. Clin. Chem. 2007, 53, 137-140
23. Khaliq, T., Sadilek, M., Scott, C. R., Turecek, F., and Gelb, M. H. Clin. Chem. 2010, in press.
24. Duffey, T. A., Khaliq, T., Scott, C. R., Turecek, F., and Gelb, M. H. Bioorg. Med. Chem. Lett. 2010, 20, 5994-5996
25. Hanson, S. R., Best, M. D., and Wong, C.-H. Angew. Chem., Int. Ed. 2004, 43, 5736-5763
26. Gelb, M. H., Turecek, F., Scott, C. R., and Chamoles, N. A. J. Inherit. Metabol. Dis. 2006, 29, 397-404
27. Duffey, T. A., Bellamy, G., Elliott, S., Fox, A. C., Glass, M., Turecek, F., Gelb, M. H., and Scott, C. R. Clin. Chem. 2010, DOI: 10.1373/clinchem.2010. 152009.