Management guidelines for mucopolysaccharidosis VI

Pediatrics

Volumn 120, Issue 2, 2007, Pages 405-418

  Giugliani, Roberto ^a   Harmatz, Paul ^b   Wraith, James E ^c  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b CHILDREN S HOSPITAL OAKLAND   (United States)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Arylsulfatase B; Galsulfase; Hematopoietic stem cell transplantation; Lysosomal storage disease; Maroteaux Lamy syndrome; Mucopolysaccharidosis; N acetylgalactosamine 4 sulfatase

Indexed keywords

ANTIHISTAMINIC AGENT; ANTIPYRETIC AGENT; DIPHENHYDRAMINE; GALSULFASE; STEROID;

ABDOMINAL PAIN; ANAPHYLAXIS; APNEA; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CLINICAL TRIAL; COMPUTER ASSISTED TOMOGRAPHY; CONJUNCTIVITIS; DIAGNOSTIC APPROACH ROUTE; DISEASE COURSE; DYSPNEA; EDEMA; ENZYME REPLACEMENT; EYE DISEASE; FEVER; FUNCTIONAL ASSESSMENT; GENETIC COUNSELING; HAND RADIOGRAPHY; HEART DISEASE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; IMMUNOGENICITY; INCIDENCE; INHERITANCE; LYSOSOME STORAGE DISEASE; MAROTEAUX LAMY SYNDROME; NAUSEA; PATHOPHYSIOLOGY; PELVIS RADIOGRAPHY; PERIPHERAL NEUROPATHY; PRACTICE GUIDELINE; PRIORITY JOURNAL; RASH; RECOMMENDED DRUG DOSE; REVIEW; RIGOR; SPINE RADIOGRAPHY; SYMPTOMATOLOGY; THORAX PAIN; URTICARIA;

DISEASE MANAGEMENT; HUMANS; MUCOPOLYSACCHARIDOSIS VI; RANDOMIZED CONTROLLED TRIALS;

EID: 34547682071     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2006-2184     Document Type: Review

References (85)

1. Maroteaux P, Levêque B, Marie J, Lamy M. A new dysostosis with urinary elimination of chondroitin sulfate B [in French]. Presse Med. 1963;71:1849-1852
2. Neufeld E, Muenzer J. The mucopolysaccharidoses. In: Scriver C, Beaudet A, Valle D, Sly W, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:3421-3452
3. Spranger JW, Koch F, McKusick VA, Natzschka J, Wiedemann HR, Zellweger H. Mucopolysaccharidosis VI (Maroteaux-Lamy's disease). Helv Paediatr Acta. 1970;25:337-362
4. Fong LV, Menahem S, Wraith JE, Chow CW. Endocardial fibroelastosis in mucopolysaccharidosis type VI. Clin Cardiol. 1987;10:362-364
5. Hayflick S, Rowe S, Kavanaugh-McHugh A, Olson JL, Valle D. Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI. J Pediatr. 1992;120:269-272
6. Pilz H, Von Figura K, Goebel H. Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy Syndrome, type B). Ann Neurol. 1979;6:315-325
7. Tonnesen T, Gregersen H, Guttler F. Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype. J Med Genet. 1991;28:499-501
8. Lowry RB, Applegarth DA, Toone JR, MacDonald E, Thunem NY. An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet. 1990;85:389-390
9. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249-254
10. Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet. 1997;101:355-358
11. Baehner F, Schmiedeskamp C, Krummenauer F, et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis. 2005;28:1011-1017
12. Pinto R, Caseiro C, Lemos M, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004;12:87-92
13. Poorthuis B, Wevers R, Kleijer W, et al. The frequency of lysosomal storage diseases in the Netherlands. Hum Genet. 1999;105:151-156
14. Swiedler S, Beck M, Bajbouj M, et al. 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;134:144-150
15. Coelho JC, Wajner M, Burin MG, Vargas CR, Giugliani R. Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism. Eur J Pediatr. 1997;156:650-654
16. Karageorgos L, Brooks D, Pollard A, et al. Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat. 2007; In press
17. Simonaro C, Haskins M, Schuchman E. Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses. Lab Invest. 2001;81:1319-1328
18. Simonaro C, D'Angelo M, Haskins M. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr Res. 2005;57:701-707
19. Jezyk PF, Haskins ME, Patterson DF, Mellman WJ, Greenstein M. Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome. Science. 1977;198:834-836
20. Abreu S, Hayden J, Berthold P, et al. Growth plate pathology in feline mucopolysaccharidosis VI. Calcif Tissue Int. 1995;57:185-190
21. Byers S, Crawley AC, Brumfield LK, Nuttall JD, Hopwood JJ. Enzyme replacement therapy in a feline model of MPS VI: modification of enzyme structure and dose frequency. Pediatr Res. 2000;47:743-749
22. Strauch OF, Stypmann J, Reinheckel T, Martinez E, Haverkamp W, Peters C. Cardiac and ocular pathologies in a mouse model of mucopolysaccharidosis type VI. Pediatr Res. 2003;54:701-708
23. Litjens T, Hopwood J. Mucopolysaccharidosis type VI: structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Hum Mutat. 2001;18:282-295
24. Human Gene Mutation Database. ARSB. Available at: www. hgmd.cf.ac.uk/ac/gene.php?gene=ARSB. Accessed March 12, 2007
25. Jin WD, Jackson CE, Desnick RJ, Schuchman EH. Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. Am J Hum Genet. 1992;50:795-800
26. Litjens T, Brooks DA, Peters C, Gibson GJ, Hopwood JJ. Identification, expression and biochemical characterization of N-acetylgalactosamine-4- sulfatase mutations and relationship with clinical phenotype in MPS-VI patients. Am J Hum Genet. 1996;58:1127-1134
27. Karageorgos L, Harmatz P, Simon J, et al. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. Hum Mutat. 2004;23:229-233
28. Karageorgos L, Brooks D, Harmatz P, et al. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy. Mol Genet Metab. 2007;90:164-170
29. Bradford TM, Litjens T, Parkinson EJ, Hopwood JJ, Brooks DA. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine-4-sulfatase at multiple points in the vacuolar network. Biochemistry. 2002;41:4962-4971
30. Whitley CB, Ridnour MD, Draper KA, Dutton CM, Neglia JP. Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion. Clin Chem. 1989;35:374-379
31. Albano L, Sugayama S, Bertola D, et al. Clinical and laboratorial study of 19 cases of mucopolysaccharidoses. Rev Hosp Clin Fac Med Sao Paulo. 2000;55:213-218
32. Brooks DA, Gibson GJ, Karageorgos L, Hein LK, Robertson EF, Hopwood JJ. An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum. Mol Genet Metab. 2005;85:236-238
33. Dierks T, Dickmanns A, Preusser-Kunze A, et al. Molecular basis for multiple sulfatase deficiency and catalytic mechanism for formylglycine generation of the human formylglycine-generating enzyme. Cell. 2005;121:541-552
34. Hein L, Meikle P, Dean C, et al. Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots. Clin Chim Acta. 2005;353:67-74
35. Krivit W. Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. Springer Semin Immunopathol. 2004;26:119-132
36. Krivit W, Pierpont M, Ayaz K, et al. Bone marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): biochemical and clinical status 24 months after transplantation. N Engl J Med. 1984;311:1606-1611
37. Harmatz P, Giugliani R, Schwartz I, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double blind, placebo-controlled multinational study of recombinant human N- acetylgalactosamine-4-sulfatase (rhASB) and follow-on open-label extension study. J Pediatr. 2006;148:533-539
38. Hoogerbrugge P, Brouwer O, Bordigoni P, et al. Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet. 1995;345:1398-1403
39. Herskhovitz E, Young E, Rainer J, et al. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): longterm follow-up. J Inherit Metab Dis. 1999;22:50-62
40. Summers C, Purple R, Krivit W, et al. Ocular changes in the mucopolysaccharidoses after bone marrow transplantation: a preliminary report. Ophthalmology. 1989;96:977-984; discussion 984-985
41. Gullingsrud E, Krivit W, Summers C. Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation: longer follow-up. Ophthalmology. 1998;105:1099-1105
42. Staba S, Escolar M, Poe M, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med. 2004;350:1960-1969
43. Peters C, Steward C. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant. 2003;31:229-239
44. Cerezyme [package insert]. Cambridge, MA: Genzyme Corp; 1999
45. Fabrazyme [package insert]. Cambridge, MA: Genzyme Corp; 2003
46. Myozyme [package insert]. Cambridge, MA: Genzyme Corp; 2006
47. Aldurazyme [package insert]. Cambridge, MA; Genzyme Corp; 2003
48. Elaprase [package insert]. Hampshire, United Kingdom: Shire Pharmaceuticals; 2006
49. Naglazyme [package insert]. Novato, CA: BioMarin Pharmaceutical Inc; 2005
50. Crawley A, Brooks D, Muller V, et al. Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J Clin Invest. 1996;97:1864-1873
51. Crawley AC, Niedzielski KH, Isaac EL, Davey RC, Byers S, Hopwood JJ. Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. J Clin Invest. 1997;99:651-662
52. Auclair D, Hopwood JJ, Brooks DA, Lemontt JF, Crawley AC. Replacement therapy in mucopolysaccharidosis type VI: advantages of early onset of therapy. Mol Genet Metab. 2003;78:163-174
53. Harmatz P, Whitley C, Waber L, et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr. 2004;144:574-580
54. Harmatz P, Ketteridge D, Giugliani R, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine-4-sulfatase. Pediatrics. 2005;115(6). Available at: www.pediatrics.org/cgi/content/full/115/6/e681
55. Harmatz P, Kramer W, Hopwood J, et al. Pharmacokinetic profile of recombinant human N-acetylgalactosamine-4-sulfatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Acta Paediatr Suppl. 2005;94:61-68; discussion 57
56. Smith KS, Hallett KB, Hall RK, Wardrop RW, Firth N. Mucopolysaccharidosis: MPS VI and associated delayed tooth eruption. Int J Oral Maxillofac Surg. 1995;24:176-180
57. Alpoz R, Coker M, Celen E, et al. The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;101:632-637
58. Simmons MA, Bruce IA, Penney S, Wraith E, Rothera MP. Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol. 2005;69:589-596
59. Semenza G, Pyeritz R. Respiratory complications of mucopolysaccharide storage disorders. Medicine (Baltimore). 1988;67:209-219
60. Leighton SE, Papsin B, Vellodi A, Dinwiddie R, Lane R, et al. Disordered breathing during sleep in patients with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol. 2001;58:127-138
61. Wippermann CF, Beck M, Schranz D, Huth R, Michel-Behnke I, Jungst BK. Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses. Eur J Pediatr. 1995;154:98-101
62. Azevedo A, Schwartz I, Kalakun L, et al. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin Genet. 2004;66:208-213
63. Hinek A, Wilson S. Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am J Pathol. 2000;156:925-938
64. Chan D, Li AM, Yam MC, Li CK, Fok TF. Hurler's syndrome with cor pulmonale secondary to obstructive sleep apnoea treated by continuous positive airway pressure. J Paediatr Child Health. 2003;39:558-559
65. Dangel J. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders: clinical and echocardiographic findings in 64 patients. Eur J Pediatr. 1998;157:534-538
66. Brosius F III, Roberts W. Coronary artery disease in the Hurler syndrome: qualitative and quantitative analysis of the extent of coronary narrowing at necropsy in six children. Am J Cardiol. 1981;47:649-653
67. Braunlin E, Hunter D, Krivit W, et al. Evaluation of coronary artery disease in the Hurler syndrome by angiography. Am J Cardiol. 1992;69:1487-1489
68. Taylor DB, Blaser SI, Burrows PE, Stringer DA, Clarke JT, Thorner P. Arteriopathy and coarctation of the abdominal aorta in children with mucopolysaccharidosis: imaging findings. AJR Am J Roentgenol. 1991;157:819-823
69. Miller G, Partridge A. Mucopolysaccharidosis type VI presenting in infancy with endocardial fibroelastosis and heart failure. Pediatr Cardiol. 1983;4:61-62
70. Tarantino M, Lail A, Donfield S, et al. Surveillance of infectious complications associated with central venous access devices in children with haemophilia. Haemophilia. 2003;9:588-592
71. Tan CT, Schaff HV, Miller FA Jr, Edwards WD, Karnes PS. Valvular heart disease in four patients with Maroteaux-Lamy syndrome. Circulation. 1992;85:188-195
72. Ashworth JL, Biswas S, Wraith E, Lloyd IC. The ocular features of the mucopolysaccharidoses. Eye. 2006;20:553-563
73. Ashworth JL, Biswas S, Wraith E, Lloyd IC. Mucopolysaccharidoses and the eye. Surv Ophthalmol. 2006;51:1-17
74. Del Monte M, Maumenee I, Edwards R. Glycosaminoglycan degradation by cultured retinal pigment epithelium from patients with retinitis pigmentosa. Curr Eye Res. 1991;10:241-248
75. Leung L, Weinstein G, Hobson R. Further electroretinographic studies of patients with mucopolysaccharidoses. Birth Defects Orig Artic Ser. 1971;7:32-40
76. Sato S, Maeda N, Watanabe H, et al. Multiple iridociliary cysts in patients with mucopolysaccharidoses. Br J Ophthalmol. 2002;86:933-934
77. Vestermark S, Tonnesen T, Andersen MS, Guttler F. Mental retardation in a patient with Maroteaux-Lamy. Clin Genet. 1987;31:114-117
78. Mabe P, Leistner S, Schwartz I, Matte U, Guigliani R. Mucopolysaccharidoses [in Spanish]. In: Colombo M, Cornejo V, Raimann E, eds. Inborn Errors in Pediatric Metabolism. Santiago, Chile: Editorial Universitaria; 2003:225-256
79. Schwartz I, Matte U, Leistner S, et al. Mucopolysaccharidoses [in Portugese]. In: Carakushansky G, ed. Genetic Diseases in Pediatrics. Rio de Janeiro, Brazil: Guanabara Koogan; 2001:180-184
80. Van Heest AE, House J, Krivit W, Walker K. Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders. J Hand Surg [Am]. 1998;23:236-243
81. Schwartz GP, Cohen EJ. Hydrocephalus in Maroteaux-Lamy syndrome. Arch Ophthalmol. 1998;116:400
82. Mut M, Cila A, Varli K, Akalan N. Multilevel myelopathy in Maroteaux-Lamy syndrome and review of the literature. Clin Neurol Neurosurg. 2005;107:230-235
83. Boor R, Miebach E, Bruhl K, Beck M. Abnormal somatosensory evoked potentials indicate compressive cervical myelopathy in mucopolysaccharidoses. Neuropediatrics. 2000;31:122-127
84. Walker R, Allen D, Rothera M. A fibreoptic intubation technique for children with mucopolysaccharidoses using the laryngeal mask airway. Paediatr Anaesth. 1997;7:421-426
85. ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories. ATS statement: guidelines for the six-minute-walk test. Am J Respir Crit Care Med. 2002;166:111-117