An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper

Clinica Chimica Acta

Volumn 413, Issue 7-8, 2012, Pages 771-778

  Auray Blais, Christiane ^a   Lavoie, Pamela ^a   Zhang, Haoyue ^b   Gagnon, René ^a   Clarke, Joe T R ^a   Maranda, Bruno ^a   Young, Sarah P ^b   An, Yan ^b   Millington, David S ^b  

^a UNIVERSITY OF SHERBROOKE   (Canada)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Efficacy of treatment; Glycosaminoglycans; LC MS MS; MPS I, II and VI; Mucopolysaccharidoses; Urine filter paper sample

Indexed keywords

CREATININE; DERMATAN SULFATE; DISACCHARIDE; GLYCOSAMINOGLYCAN; HEPARAN SULFATE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; ELECTROSPRAY; FEMALE; FILTER PAPER; HUMAN; HURLER SYNDROME; INFANT; LABORATORY DEVICE; LIMIT OF QUANTITATION; LIQUID CHROMATOGRAPHY; MALE; MAROTEAUX LAMY SYNDROME; METHANOLYSIS; PATIENT MONITORING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHEIE SYNDROME; SCHOOL CHILD; TANDEM MASS SPECTROMETRY; TEMPERATURE; URINALYSIS;

CHROMATOGRAPHY, LIQUID; GLYCOSAMINOGLYCANS; HUMANS; PAPER; REFERENCE STANDARDS; TANDEM MASS SPECTROMETRY;

EID: 84862807227     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2012.01.012     Document Type: Article

References (24)

1. Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 2004, 144:S27-S34.
2. Giugliani R., Federhen A., Rojas M.V., et al. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genet Mol Biol 2010, 33(4):589-604.
3. Auray-Blais C., Bhérer P., Gagnon R., et al. Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI. Mol Genet Metab 2011, 102(1):49-56.
4. Huang K.C., Sukegawa K., Orii T. Screening test for urinary glycosaminoglycans and differentiation of various mucopolysaccharidoses. Clin Chim Acta 1985, 151(2):147-156.
5. Berry H.K. Screening for mucopolysaccharide disorders with the Berry spot test. Clin Biochem 1987, 20(5):365-371.
6. Gray G., Claridge P., Jenkinson L., Green A. Quantitation of urinary glycosaminoglycans using dimethylene blue as a screening technique for the diagnosis of mucopolysaccharidoses - an evaluation. Ann Clin Biochem 2007, 44:360-363.
7. Alonso-Fernandez J.R., Fidalgo J., Colon C. Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine-impregnated paper: preliminary results of an improved DMB-based procedure. J Clin Lab Anal 2010, 24:149-153.
8. Hochuli M., Wϋthrich K., Beat Steinmann B. Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses. NMR Biomed 2003, 16:224-236.
9. Ramsay S.L., Meikle P.J., Hopwood J.J. Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry. Mol Genet Metab 2003, 78:193-204.
10. Zhang H., Young S.P., Auray-Blais C., Orchard P.J., Tolar J., Millington D.S. Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquid chromatography-tandem mass spectrometry. Clin Chem 2011, 57(7):1005-1012.
11. Neufeld E.F., Muenzer J. The mucopolysaccharidoses. The metabolic and molecular basis of inherited disease 2001, 3421. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
12. Zaia J. On-line separations combined with MS for analysis of glycosaminoglycans. Mass Spectrom Rev 2009, 28:254-272.
13. Oguma T., Tomatsu S., Montano A.M., Okazaki O. Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry. Anal Biochem 2007, 368:79-86.
14. Auray-Blais C., Giguère R., Paradis D., Lemieux B. Rapid thin-layer chromatographic method for the detection of urinary methylmalonic acid. Clin Biochem 1979, 12(2):43-45.
15. Auray-Blais C., Giguère R., Lemieux B. Thin-layer chromatography of urinary homovanillic acid and vanillylmandelic acid for large-scale neuroblastoma mass screening. Med Pediatr Oncol 1989, 17(5):364-367.
16. Auray-Blais C., Giguère R., Lemieux B. Newborn urine screening programme in the province of Quebec: an update of 30 years' experience. J Inherit Metab Dis 2003, 26(4):393-402.
17. Auray-Blais C., Cyr D., Drouin R. Quebec Neonatal Mass Urinary Screening Programme: from micromolecules to macromolecules. J Inherit Metab Dis 2007, 30(4):515-521.
18. Auray-Blais C., Cyr D., Mills K., Giguère R., Drouin R. Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. J Inherit Metab Dis 2007, 30:106.
19. Auray-Blais C., Cyr D., Ntwari A., et al. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol Genet Metab 2008, 93(3):331-340.
20. Auray-Blais C., Millington D.S., Young S.P., Clarke J.T.R., Schiffmann R. Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. J Inherit Metab Dis 2009, 32:303-308.
21. 3/creatinine biomarkers for Fabry disease: issues to consider. Mol Genet Metab 2009, 97:237.
22. Lemieux B., Auray-Blais C., Giguère R., Shapcott D., Scriver C.R. Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine. J Inherit Metab Dis 1988, 11(1):45-55.
23. Tuchman M., Lemieux B., Auray-Blais C., et al. Screening for neuroblastoma at 3 weeks of age: methods and preliminary results from the Quebec Neuroblastoma Screening Project. Pediatrics 1990, 86(5):765-773.
24. Nielsen T.C., Rozek T., Hopwood J.J., Fuller M. Determination of urinary oligosaccharides by high-performance liquid chromatography/electrospray ionization-tandem mass spectrometry: application to Hunter syndrome. Anal Biochem 2010, 402(2):113-120.