Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

Molecular Genetics and Metabolism

Volumn 107, Issue 4, 2012, Pages 705-710

  de Ruijter, Jessica ^a   de Ru, Minke H ^a   Wagemans, Tom ^a   IJlst, Lodewijk ^a   Lund, Allan M ^b   Orchard, Paul J ^c   Schaefer, G Bradley ^d   Wijburg, Frits A ^a   van Vlies, Naomi ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b University of Copenhagen   (Denmark)

^c UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

Dermatan sulfate; Heparan sulfate; Mucopolysaccharidosis type I; Mucopolysaccharidosis type II; Mucopolysaccharidosis type III; Newborn screening

Indexed keywords

BIOCHEMICAL MARKER; DERMATAN SULFATE; DISACCHARIDE; HEPARAN SULFATE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE SEVERITY; DRIED BLOOD SPOT TESTING; EARLY DIAGNOSIS; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; MEASUREMENT; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PRIORITY JOURNAL; RELIABILITY; SANFILIPPO SYNDROME; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY;

BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; DERMATAN SULFATE; DISACCHARIDES; HEPARITIN SULFATE; HUMANS; INFANT; INFANT, NEWBORN; MUCOPOLYSACCHARIDOSES; MUCOPOLYSACCHARIDOSIS I; MUCOPOLYSACCHARIDOSIS II; MUCOPOLYSACCHARIDOSIS III; NEONATAL SCREENING; REPRODUCIBILITY OF RESULTS; TANDEM MASS SPECTROMETRY;

EID: 84869885237     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.09.024     Document Type: Article

References (37)

1. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 2011, 50(Suppl. 5):v4-v12.
2. Clarke L.A., Wraith J.E., Beck M., Kolodny E.H., Pastores G.M., Muenzer J., Rapoport D.M., Berger K.I., Sidman M., Kakkis E.D., Cox G.F. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 2009, 123:229-240.
3. Harmatz P., Giugliani R., Schwartz I., Guffon N., Teles E.L., Miranda M.C., Wraith J.E., Beck M., Arash L., Scarpa M., Yu Z.F., Wittes J., Berger K.I., Newman M.S., Lowe A.M., Kakkis E., Swiedler S.J. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J. Pediatr. 2006, 148:533-539.
4. Muenzer J., Wraith J.E., Beck M., Giugliani R., Harmatz P., Eng C.M., Vellodi A., Martin R., Ramaswami U., Gucsavas-Calikoglu M., Vijayaraghavan S., Wendt S., Puga A.C., Ulbrich B., Shinawi M., Cleary M., Piper D., Conway A.M., Kimura A. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet. Med. 2006, 8:465-473.
5. Prasad V.K., Kurtzberg J. Transplant outcomes in mucopolysaccharidoses. Semin. Hematol. 2010, 47:59-69.
6. Valayannopoulos V., Wijburg F.A. Therapy for the mucopolysaccharidoses. Rheumatology (Oxford) 2011, 50(Suppl. 5):v49-v59.
7. de Ru M.H., Boelens J.J., Das A.M., Jones S.A., van der Lee J.H., Mahlaoui N., Mengel E., Offringa M., O'Meara A., Parini R., Rovelli A., Sykora K.W., Valayannopoulos V., Vellodi A., Wynn R.F., Wijburg F.A. Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J. Rare Dis. 2011, 6:55.
8. Boelens J.J., Rocha V., Aldenhoven M., Wynn R., O'Meara A., Michel G., Ionescu I., Parikh S., Prasad V.K., Szabolcs P., Escolar M., Gluckman E., Cavazzana-Calvo M., Kurtzberg J. Risk factor analysis of outcomes after unrelated cord blood transplantation in patients with Hurler syndrome. Biol. Blood Marrow Transplant. 2009, 15:618-625.
9. Gabrielli O., Clarke L.A., Bruni S., Coppa G.V. Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up. Pediatrics 2010, 125:e183-e187.
10. McGill J.J., Inwood A.C., Coman D.J., Lipke M.L., de Lore D., Swiedler S.J., Hopwood J.J. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age - a sibling control study. Clin. Genet. 2010, 77:492-498.
11. Tylki-Szymanska A., Jurecka A., Zuber Z., Rozdzynska A., Marucha J., Czartoryska B. Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up. Acta Paediatr. 2012, 101:e42-e47.
12. Wang R.Y., Cambray-Forker E.J., Ohanian K., Karlin D.S., Covault K.K., Schwartz P.H., Abdenur J.E. Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II. Mol. Genet. Metab. 2009, 98:406-411.
13. D'Aco K., Underhill L., Rangachari L., Arn P., Cox G.F., Giugliani R., Okuyama T., Wijburg F., Kaplan P. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur. J. Pediatr. 2012, 171:911-919.
14. Valstar M.J., Neijs S., Bruggenwirth H.T., Olmer R., Ruijter G.J., Wevers R.A., van Diggelen O.P., Poorthuis B.J., Halley D.J., Wijburg F.A. Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Ann. Neurol. 2010, 68:876-887.
15. Valstar M.J., Bruggenwirth H.T., Olmer R., Wevers R.A., Verheijen F.W., Poorthuis B.J., Halley D.J., Wijburg F.A. Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J. Inherit. Metab. Dis. 2010, 33:759-767.
16. Chamoles N.A., Blanco M., Gaggioli D. Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis. Clin. Chem. 2001, 47:780-781.
17. Meikle P.J., Grasby D.J., Dean C.J., Lang D.L., Bockmann M., Whittle A.M., Fietz M.J., Simonsen H., Fuller M., Brooks D.A., Hopwood J.J. Newborn screening for lysosomal storage disorders. Mol. Genet. Metab. 2006, 88:307-314.
18. Fuller M., Tucker J.N., Lang D.L., Dean C.J., Fietz M.J., Meikle P.J., Hopwood J.J. Screening patients referred to a metabolic clinic for lysosomal storage disorders. J. Med. Genet. 2011, 48:422-425.
19. Camelier M.V., Burin M.G., de Mari J., Vieira T.A., Marasca G., Giugliani R. Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples. Clin. Chim. Acta 2011, 412:1805-1808.
20. 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.
21. Fuller M., Meikle P.J., Hopwood J.J. Epidemiology of lysosomal storage diseases: an overview 2006.
22. Marsden D., Levy H. Newborn screening of lysosomal storage disorders. Clin. Chem. 2010, 56:1071-1079.
23. Gerber S.A., Scott C.R., Turecek F., Gelb M.H. Direct profiling of multiple enzyme activities in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry: application to clinical enzymology. Anal. Chem. 2001, 73:1651-1657.
24. Li Y., Scott C.R., Chamoles N.A., Ghavami A., Pinto B.M., Turecek F., Gelb M.H. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin. Chem. 2004, 50:1785-1796.
25. 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., Caggana M. Implementation of newborn screening for Krabbe disease: population study and cutoff determination. Clin. Biochem. 2009, 42:877-884.
26. Orsini J.J., Martin M.M., Showers A.L., Bodamer O.A., Zhang X.K., Gelb M.H., Caggana M. Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders. Clin. Chem. Acta 2012, 413:1270-1273.
27. Tomatsu S., Montano A.M., Oguma T., Dung V.C., Oikawa H., de Carvalho T.G., Gutierrez M.L., Yamaguchi S., Suzuki Y., Fukushi M., Sakura N., Barrera L., Kida K., Kubota M., Orii T. Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I. J. Inherit. Metab. Dis. 2010, 33:141-150.
28. Tomatsu S., Montano A.M., Oguma T., Dung V.C., Oikawa H., Gutierrez M.L., Yamaguchi S., Suzuki Y., Fukushi M., Barrera L.A., Kida K., Kubota M., Orii T. Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. Mol. Genet. Metab. 2010, 99:124-131.
29. 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.
30. Lawrence R., Lu H., Rosenberg R.D., Esko J.D., Zhang L. Disaccharide structure code for the easy representation of constituent oligosaccharides from glycosaminoglycans. Nat. Methods 2008, 5:291-292.
31. Martell L., Lau K., Mei M., Burnett V., Decker C., Foehr E.D. Biomarker analysis of Morquio syndrome: identification of disease state and drug responsive markers. Orphanet J. Rare Dis. 2011, 6:84.
32. S. Tomatsu, A.M. Montano, T. Oguma, V.C. Dung, H. Oikawa, T.G. de Carvalho, M.L. Gutierrez, S. Yamaguchi, Y. Suzuki, M. Fukushi, K. Kida, M. Kubota, L. Barrera, T. Orii, Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry, J. Inherit. Metab. Dis. (in press), http://dx.doi.org/10.1007/s10545-009-9013-x.
33. Randall D.R., Colobong K.E., Hemmelgarn H., Sinclair G.B., Hetty E., Thomas A., Bodamer O.A., Volkmar B., Fernhoff P.M., Casey R., Chan A.K., Mitchell G., Stockler S., Melancon S., Rupar T., Clarke L.A. Heparin cofactor II-thrombin complex: a biomarker of MPS disease. Mol. Genet. Metab. 2008, 94:456-461.
34. Langford-Smith K.J., Mercer J., Petty J., Tylee K., Church H., Roberts J., Moss G., Jones S., Wynn R., Wraith J.E., Bigger B.W. Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases. J. Inherit. Metab. Dis. 2011, 34:499-508.
35. Muschol N., Pohl S., Meyer A., Gal A., Ullrich K., Braulke T. Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. Am. J. Med. Genet. A 2011, 155A:1634-1639.
36. Ruijter G.J., Valstar M.J., van de Kamp J.M., van der Helm R.M., Durand S., van Diggelen O.P., Wevers R.A., Poorthuis B.J., Pshezhetsky A.V., Wijburg F.A. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol. Genet. Metab. 2008, 93:104-111.
37. Yogalingam G., Hopwood J.J. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. Hum. Mutat. 2001, 18:264-281.