Expert recommendations for the laboratory diagnosis of MPS VI

Molecular Genetics and Metabolism

Volumn 106, Issue 1, 2012, Pages 73-82

  Wood, T ^a   Bodamer, O A ^b   Burin, M G ^c   D'Almeida, V ^d   Fietz, M ^e   Giugliani, R ^c,f   Hawley, S M ^g   Hendriksz, C J ^h   Hwu, W L ⁱ   Ketteridge, D ^e   Lukacs, Z ^j   Mendelsohn, N J ^k   Miller, N ^g   Pasquali, M ^l   Schenone, A ^m   Schoonderwoerd, K ⁿ   Winchester, B ^o   Harmatz, P ^p  

^a GREENWOOD GENETIC CENTER   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^d FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^e WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^f FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^g BIOMARIN PHARMACEUTICAL INC   (United States)

^h BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

ⁱ NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^j UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^k CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^l ARUP LABORATORIES   (United States)

^m Fundación para el Estudio de las Enfermedades Neurometabólicas ^*  (Argentina)

ⁿ ERASMUS MEDICAL CENTER   (Netherlands)

^o UNIVERSITY COLLEGE LONDON   (United Kingdom)

^p CHILDREN S HOSPITAL OAKLAND   (United States)

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Author keywords

Algorithm; Arylsulfatase B; Diagnosis; Glycosaminoglycan; Maroteaux Lamy syndrome; MPS VI

Indexed keywords

DERMATAN SULFATE; GLYCOSAMINOGLYCAN; N ACETYLGALACTOSAMINE 4 SULFATASE;

ARTICLE; BLOOD SAMPLING; DRIED BLOOD SPOT TESTING; ELECTROPHORETIC MOBILITY; ENZYME ACTIVITY; ENZYME LINKED IMMUNOSORBENT ASSAY; GENETIC COUNSELING; HUMAN; IMMUNOFLUORESCENCE TEST; ION EXCHANGE CHROMATOGRAPHY; LABORATORY DIAGNOSIS; LEUKOCYTE; LIQUID CHROMATOGRAPHY; MAROTEAUX LAMY SYNDROME; MULTIPLE SULFATASE DEFICIENCY; PRIORITY JOURNAL; PUNCH BIOPSY; SPECTROPHOTOMETRY; TANDEM MASS SPECTROMETRY; URINALYSIS;

CEREBROSIDE-SULFATASE; DRIED BLOOD SPOT TESTING; GLYCOSAMINOGLYCANS; HUMANS; MUCOPOLYSACCHARIDOSIS VI; N-ACETYLGALACTOSAMINE-4-SULFATASE;

EID: 84860194402     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.02.005     Document Type: Article

References (73)

1. Neufeld E.F., Muenzer J. The mucopolysaccharidoses. The Metabolic Basis of Inherited Disease 1995, 2465-2493. McGraw-Hill, New York. C. Scriver, A.L. Beaudet, W.S. Sly (Eds.).
2. Karageorgos L., Brooks D.A., Pollard A., Melville E.L., Hein L.K., Clements P.R., Ketteridge D., Swiedler S.J., Beck M., Giugliani R., Harmatz P., Wraith J.E., Guffon N., Leão Teles E., Sá Miranda M.C., Hopwood J.J. Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum. Mutat. 2007, 28:897-903.
3. Maroteaux P., Leveque B., Marie J., Lamy M. A new dysostosis with urinary elimination of chondroitin sulfate B. Presse Med. 1963, 71:1849-1852.
4. Baehner F., Schmiedeskamp C., Krummenauer F., Miebach E., Bajbouj M., Whybra C., Kohlschütter A., Kampmann C., Beck M. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J. Inherit. Metab. Dis. 2005, 28:1011-1017.
5. Malm G., Lund A.M., Mansson J.E., Heiberg A. Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. Acta Paediatr. 2008, 97:1577-1581.
6. Azevedo A.C., Schwartz I.V., Kalakun L., Brustolin S., Burin M.G., Beheregaray A.P., Leistner S., Giugliani C., Rosa M., Barrios P., Marinho D., Esteves P., Valadares E., Boy R., Horovitz D., Mabe P., da Silva L.C., de Souza I.C., Ribeiro M., Martins A.M., Palhares D., Kim C.A., Giugliani R. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin. Genet. 2004, 66:208-213.
7. Whitley C.B., Ridnour M.D., Draper K.A., Dutton C.M., Neglia J.P. Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion. Clin. Chem. 1989, 35:374-379.
8. Hopwood J.J., Harrison J.R. High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses. Anal. Biochem. 1982, 119:120-127.
9. Brooks D.A., McCourt P.A., Gibson G.J., Ashton L.J., Shutter M., Hopwood J.J. Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients. Am. J. Hum. Genet. 1991, 48:710-719.
10. Swiedler S.J., Beck M., Bajbouj M., Giugliani R., Schwartz I., Harmatz P., Wraith J.E., Roberts J., Ketteridge D., Hopwood J.J., Guffon N., Sá Miranda M.C., Teles E.L., Berger K.I., Piscia-Nichols C. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am. J. Med. Genet. A 2005, 134A:144-150.
11. Litjens T., Hopwood J.J. Mucopolysaccharidosis type VI: structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Hum. Mutat. 2001, 18:282-295.
12. Uribe A., Cé J., Guidobono R., España M., Burin M., Giugliani R. Screening for mucopolysaccharidosis: quantitative and electrophoretic analysis of glycosaminoglycans in urine samples collected on filter paper. Poster presented at the 11th International Symposium on Mucopolysaccharide and Related Diseases, 23 June 2010, Adelaide, South Australia 2010.
13. Mabe P., Valiente A., Soto V., Cornejo V., Raimann E. Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests. Clin. Chim. Acta 2004, 345:135-140.
14. Whitley C.B., Draper K.A., Dutton C.M., Brown P.A., Severson S.L., France L.A. Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix. Clin. Chem. 1989, 35:2074-2081.
15. Whitley C.B., Spielmann R.C., Herro G., Teragawa S.S. Urinary glycosaminoglycan excretion quantified by an automated semimicro method in specimens conveniently transported from around the globe. Mol. Genet. Metab. 2002, 75:56-64.
16. Gallegos-Arreola M.P., Machorro-Lazo M.V., Flores-Martinez S.E., Zúñiga-González G.M., Figuera L.E., González-Noriega A., Sánchez-Corona J. Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses. Arch. Med. Res. 2000, 31:505-510.
17. de Jong J.G., Wevers R.A., Laarakkers C., Poorthuis B.J. Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. Clin. Chem. 1989, 35:1472-1477.
18. Manley G., Williams U. Urinary excretion of glycosaminoglycans in the various forms of gargoylism. J. Clin. Pathol. 1969, 22:67-75.
19. 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.
20. Tønnesen T., Gregersen H.N., Güttler F. Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype. J. Med. Genet. 1991, 28:499-501.
21. Gottwald I., Hughes J., Stewart F., Tylee K., Church H., Jones S.A. Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene. Mol. Genet. Metab. 2011, 103:300-302.
22. Piraud M., Boyer S., Mathieu M., Maire I. Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2,000 urine samples. Clin. Chim. Acta 1993, 221:171-181.
23. European Research Network for Evaluation and Improvement of Screening, Diagnosis and Treatment of Inherited Disorders of Metabolism Accessed 4 October 2011. http://www.erndim.unibas.ch/.
24. College of American Pathologists Accessed 4 October 2011. http://www.cap.org.
25. Auray-Blais C., Bherer P., Gagnon R., Young S.P., Zhang H.H., An Y., Clarke J.T., Millington D.S. Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI. Mol. Genet. Metab. 2011, 102:49-56.
26. 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, 57:1005-1012.
27. Ii T., Okuda S., Hirano T., Ohashi M. Tandem mass spectrometry for characterization of unsaturated disaccharides from chondroitin sulfate, dermatan sulfate and hyaluronan. Glycoconj. J. 1994, 11:123-132.
28. 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.
29. Takagaki K., Munakata H., Nakamura W., Matsuya H., Majima M., Endo M. Ion-spray mass spectrometry for identification of the nonreducing terminal sugar of glycosaminoglycan. Glycobiology 1998, 8:719-724.
30. Tomatsu S., Montano A.M., Oguma T., Dung V.C., Oikawa H., Gutiérrez 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.
31. Fluharty A.L., Stevens R.L., Fung D., Peak S., Kihara H. Uridine diphospho-N-acetylgalactosamine-4-sulfate sulfohydrolase activity of human arylsulfatase B and its deficiency in the Maroteaux-Lamy syndrome. Biochem. Biophys. Res. Commun. 1975, 64:955-962.
32. Baum H., Dodgson K.S., Spencer B. The assay of arylsulphatases A and B in human urine. Clin. Chim. Acta 1959, 4:453-455.
33. Rybarska-Stylínska J., Van Etten R.L. Antigen-antibody interactions and the anomalous kinetics of arylsulfatase A. Biochim. Biophys. Acta 1979, 570:107-117.
34. Christomanou H., Sandhoff K. A sensitive fluorescence assay for the simultaneous and separate determination of arylsulphatases A and B. Clin. Chim. Acta 1977, 79:527-531.
35. Sherman W.R., Stanfield E.F. Measurement of the arylsulphatase of Patella vulgata with 4-methylumbelliferone sulphate. Biochem. J. 1967, 102:905-909.
36. Bostick W.D., Dinsmore S.R., Mrochek J.E., Waalkes T.P. Separation and analysis of arylsulfatase isoenzymes in body fluids of man. Clin. Chem. 1978, 24:1305-1316.
37. 3. Clin. Chim. Acta 1979, 93:85-92.
38. Lee-Vaupel M., Conzelmann E. A simple chromogenic assay for arylsulfatase A. Clin. Chim. Acta 1987, 164:171-180.
39. Rinderknecht H., Geokas M.C., Carmack C., Haverback B.J. The determination of arylsulfatases in biological fluids. Clin. Chim. Acta 1970, 29:481-491.
40. Harinath B.C., Robins E. Arylsulphatases in human brain: assay, some properties, and distribution. J. Neurochem. 1971, 18:237-244.
41. Chang P.L., Rosa N.E., Davidson R.G. Differential assay of arylsulfatase A and B activities: a sensitive method for cultured human cells. Anal. Biochem. 1981, 117:382-389.
42. 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.
43. Civallero G., Michelin K., de Mari J., Viapiana M., Burin M., Coelho J.C., Giugliani R. Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases. Clin. Chim. Acta 2006, 372:98-102.
44. Dodgson K.S., Spencer B., Wynn C.H. Studies on sulphatases. 12. The arylsulphatases of human tissues. Biochem. J. 1956, 62:500-507.
45. Rattazzi M.C., Marks J.S., Davidson R.G. Electrophoresis of arylsulfatase from normal individuals and patients with metachromatic leukodystrophy. Am. J. Hum. Genet. 1973, 25:310-316.
46. Shapira E., Nadler H.L. Problems associated with the determination of arylsulfatase A and B using nitrocatechol sulfate substrate. Clin. Chim. Acta 1975, 65:1-4.
47. Herskhovitz E., Young E., Rainer J., Hall C.M., Lidchi V., Chong K., Vellodi A. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up. J. Inherit. Metab. Dis. 1999, 22:50-62.
48. Hein L.K., Meikle P.J., Dean C.J., Bockmann M.R., Auclair D., Hopwood J.J., Brooks D.A. Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots. Clin. Chim. Acta 2005, 353:67-74.
49. 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.
50. Hopwood J.J., Elliott H., Muller V.J., Saccone G.T. Diagnosis of Maroteaux-Lamy syndrome by the use of radiolabelled oligosaccharides as substrates for the determination of arylsulphatase B activity. Biochem. J. 1986, 234:507-514.
51. Duffey T.A., Khaliq T., Scott C.R., Turece F., Gelb M.H. Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes. Bioorg. Med. Chem. Lett. 2010, 20:5994-5996.
52. Duffey T.A., Sadilek M., Scott C.R., Turecek F., Gelb M.H. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Anal. Chem. 2010, 82:9587-9591.
53. Müller K.B., Rodrigues M.D., Pereira V.G., Martins A.M., D'Almeida V. Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience. Diagn. Pathol. 2010, 29:65.
54. Aboul Nasr A., Fateen E. Prenatal diagnosis of mucopolysaccharidoses (MPS): the first Egyptian experience. Bratisl. Lek. Listy 2004, 105:310-314.
55. Sanguinetti N., Marsh J., Jackson M., Fensom A.H., Warren R.C., Rodeck C.H. The arylsulphatases of chorionic villi: potential problems in the first-trimester diagnosis of metachromatic leucodystrophy and Maroteaux-Lamy disease. Clin. Genet. 1986, 30:302-308.
56. Van Dyke D.L., Fluharty A.L., Schafer I.A., Shapiro L.J., Kihara H., Weiss L. Prenatal diagnosis of Maroteaux-Lamy syndrome. Am. J. Med. Genet. 1981, 8:235-242.
57. Rogoyski A., Czartoryska B., Kleijer W.J., Niermeijer M.F., Tronowska T.D., Gorska D., Polatynska-Krzyspiak B., Zaremba J. Postnatal and prenatal diagnosis of Maroteaux-Lamy syndrome. Acta Anthropogenet. 1985, 9:109-116.
58. Soong B.-W., Casamassima A.C., Fink J.K., Constantopoulos G., Horwitz A.L. Multiple sulfatase deficiency. Neurology 1988, 38:1273-1275.
59. Gieselmann V., Polten A., Kreysing J., von Figura K. Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. Proc. Natl. Acad. Sci. U. S. A. 1989, 86:9436-9440.
60. Kornfeld S. Trafficking of lysosomal enzymes in normal and disease states. J. Clin. Invest. 1986, 77:1-6.
61. Gusina N.B., Tsukerman G.L. Lysosomal hydrolase activity of the plasma and leukocytes of homo- and heterozygotes with various types of I-cell disease. Vopr. Med. Khim. 1988, 34:21-25.
62. Ruijter G.J.G., Boer M., Weykamp C.W., De Vries R., van den Berg I., Janssens-Puister J., Niezen-Koning K., Wevers R.A., Poorthuis B.J.H.M., van Diggelen O.P. External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study. J. Inherit. Metab. Dis. 2005, 28:979-990.
63. Litjens T., Baker E.G., Beckmann K.R., Morris C.P., Hopwood J.J., Callen D.F. Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase. Hum. Genet. 1989, 82:67-68.
64. Modaressi S., Rupp K., von Figura K., Peters C. Structure of the human arylsulfatase B gene. Biol. Chem. Hoppe Seyler 1993, 374:327-335.
65. Zanetti A., Ferraresi E., Picci L., Filocamo M., Parini R., Rosano C., Tomanin R., Scarpa M. Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism. Eur. J. Hum. Genet. 2009, 17:1160-1164.
66. Lin W.D., Lin S.P., Wang C.H., Hwu W.L., Chuang C.K., Lin S.J., Tsai Y., Chen C.P., Tsai F.J. Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. Clin. Chim. Acta 2008, 394:89-93.
67. Garrido E., Chabas A., Coll M.J., Blanco M., Dominguez C., Grinberg D., Vilageliu L., Cormand B. Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Mol. Genet. Metab. 2007, 92:122-130.
68. Valayannopoulos V., Nicely H., Harmatz P., Turbeville S. Mucopolysaccharidosis VI. Orphanet J. Rare Dis. 2010, 5:5.
69. Lehman T.J., Miller N., Norquist B., Underhill L., Keutzer J. Diagnosis of the mucopolysaccharidoses. Rheumatology 2011, 50:v41-v48.
70. Ferrari S., Ponzin D., Ashworth J.L., Fahnehjelm K.T., Summers C.G., Harmatz P.R., Scarpa M. Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis. Br. J. Ophthalmol. 2011, 95:613-619.
71. D'Almeida V., Burin M.G., Muller K.B., Schwartz I.V., de Mari J., Martins A.M., Giugliani R. (P-406) High correlation of ARSB activity in DBS across Brazilian laboratories supports an important role for this measurement on the detection of MPS VI. J. Inherit. Metab. Dis. 2011, 34:S49-S286.
72. Accessed 24 October 2011. http://www.youtube.com/watch?v=dvrWgmiFrBA.
73. Boelens J.J., Wynn R.F., Bierings M. HSCT for inborn errors of metabolism. ESH-EBMT Handbook on Haematopoietic Stem Cell Transplantation 2008, 544-553. Forum Service Editore, Genoa, Italy. J. Apperley, E. Carreras, E. Gluckman, A. Gratwohl, T. Masszi (Eds.).