Impairment of body growth in mucopolysaccharidoses

Handbook of Growth and Growth Monitoring in Health and Disease

Volumn , Issue , 2012, Pages 2091-2117

  Tomatsu, Shunji ^a   Montaño, Adriana M ^a   Oikawa, Hirotaka ^a   Giugliani, Roberto ^b   Harmatz, Paul ^c   Smith, Mary ^d   Suzuki, Yasuyuki ^e   Orii, Tadao ^e  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c CHILDREN S HOSPITAL OAKLAND   (United States)

^d International Morquio Organization   (United States)

^e GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84947492149     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4419-1795-9_216     Document Type: Chapter

References (64)

1. Abreu S, Hayden J, Berthold P, Shapiro IM, Decker S, Patterson D, Haskins M. Growth plate pathology in feline mucopolysaccharidosis VI. Calcif Tissue Int. 1995;57:185-90.
2. Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia. Pediatrics. 2000;105:e10.
3. Ayatollahi SM, Pourahmad S. Height and weight of primary schoolchildren in Shiraz city, southern Iran, 2002. Am J Hum Biol. 2006;18:838-40.
4. Azevedo ACM, Schwartz IV, Kalakun L, Brustolin S, Burin MG, Beheregaray APC, Leistner S, Giugliani C, Rosa M, Barrios P, Marinho D, Esteves P, Valadares E, Boy R, Horovitz D, Mabe P, da Silva LCS, de Souza ICN, Ribeiro M, Martins AM, Palhares D, Kim CA, Giugliani R. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin Genet. 2004;66:208-13.
5. 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;28:1011-7.
6. Beck M, Glössl J, Grubisic A, Spranger J. Heterogeneity of Morquio disease. Clin Genet. 1986;29:325-31.
7. Butler MG, Meany FJ. An anthropometric study of 38 individuals with Prader-Labhart-Willi syndrome. Am J Hum Genet. 1987;26:445-55.
8. Byers S, Nuttall, Crawley AC, Hopwood JJ, Smith K, Fazzalari NL. Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI. Bone. 1997;21:425-31.
9. Clementi M, Milani S, Mammi I, Boni S, Monciotti C, Tenconi R. Neurofibromatosis type 1 growth charts. Am J Med Genet. 1999;87:317-23.
10. Cole TJ, Green PJ. Smoothing reference centile curves: The LMS method and penalized likelihood. Stat Med. 1992;11:1305-19.
11. Cole TJ, Freeman JV, Preece MA. British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood. Stat Med. 1998;17:407-29.
12. Decker C, Yu ZF, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Swiedler SJ, Conrad S, Harmatz P. Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med. 2010;3(2):89-100.
13. Erkula G, Jones KB, Sponseller PD, Dietz HC, Pyeritz RE. Growth and maturation in Marfan syndrome. Am J Med Genet. 2002;109:100-15.
14. Gawlik A, Gawlik T, Augustyn M, Woska W, Malecka-Tendera E. Validation of growth charts for girls with Turner syndrome. Int J Clin Pract. 2006;60:150-5.
15. Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007;120:405-18.
16. Gollust SE, Thompson RE, Gooding HC, Biesecker BB. Living with achondroplasia in an average-sized world: an assessment of quality of life. Am J Med Genet A. 2003;120A:447-58.
17. Harmatz P, Whitley CB, Waber L, Pais R, Steiner R, Plecko B, Kaplan P, Simon J, Butensky E, Hopwood JJ. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr. 2004;144:574-80.
18. Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles EL, Miranda MC, Yu ZF, Swiedler SJ, Hopwood JJ. 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:e681-9.
19. Harmatz P, Giugliani R, Schwartz I, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebocontrolled, 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;148:533-9.
20. Harmatz P, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, et al. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab. 2008;94:469-75.
21. Hauffa BP, Schlippe G, Roos M, Gillessen-Kaesbach G, Gasser T. Spontaneous growth in German children and adolescents with genetically confirmed Prader-Willi syndrome. Acta Paediatr. 2000;89:1302-11.
22. Heron D, Baumann C, Benichou JJ, Harpey JP, Le Merrer M. Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation. Eur J Pediatr. 2004;163:323-6.
23. Herskhovitz E, Young E, Rainer J, Hall CM, Lidchi V, Chong K, Vellodi A. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): Long-term follow-up. J Inherit Medab Dis. 1999;22:50-62.
24. Hoover-Fong JE, Schulze KJ, McGready J, Barnes H, Scott CI. Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height. Am J Clin Nutr. 2008;88:364-71.
25. Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, Izykowski B, Phillips J, Doroshow R, Walot I, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med. 2001;344:182-8.
26. Kanazawa T, Yasunaga Y, Ikuta Y, Harada A, Kusaka O, Sukegawa K. Femoral head dysplasia in Morquio disease type A: Bilateral varus osteotomy of the femur. Acta Orthop Scand. 2001;72:18-21.
27. Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Teles EL, Miranda MCS, Hopwood JJ. Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat. 2007;28:897-903.
28. Kuczmarski RJ, Ogden CL, Guo SS, Grummer-Strawn LM, Flegal KM, Mei Z, Wei R, Curtin LR, Roche AF, Johnson CL. 2000 CDC Growth Charts for the United States: methods and development. Vital Health Stat. 2002;11:1-190.
29. Lowry RB, Applegarth DA, Toone JR, MacDonald E, Thunem NY. An update on the frequency ofmucopolysaccharide syndromes in British Columbia. Hum Genet. 1990;85:389-90.
30. Marinescu RC, Mainardi PC, Collins MR, Kouahou M, Coucourde G, Pastore G, Eaton-Evans J, Overhauser J. Growth charts for cri-du-chat syndrome: an international collaborative study. Am J Med Genet. 2000;94:153-62.
31. Martin NDT, Smith WR, Cole TJ, Preece MA. New height, weight and head circumference charts for British children with Williams syndrome. Arch Dis Child. 2007;97:598-601.
32. Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V, Muenzer J. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008;121:e377-86.
33. McGill JJ, Inwood AC, Coman DJ, Lipke ML, Skinner J, Morris B, Adsett D, Nevin N, Smith H, Hopwood JJ, Swiedler S. Enzyme replacement therapy for MPS VI with recombinant human N-acetylgalactosamine 4-sulphatase (rhASB) from 8 weeks of age -a sibling control study. J Inherit Met Dis. 2006;29(Suppl 1):65.
34. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249-54.
35. Monroy MA, Ross FP, Teitelbaum SL, Sands MS. Abnormal osteoclast morphology and bone remodeling in a murine model of a lysosomal storage disease. Bone. 2002;30:352-9.
36. Montaño AM, Sukegawa K, Kato Z, Carrozzo R, Di Natale P, Christensen E, Orii KO, Orii T, Kondo N, Tomatsu S. Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase. J Inherit Metab Dis. 2007a;30:758-67.
37. Montaño AM, Tomatsu S, Brusius A, Smith M, Orii T. Growth charts for patients affected with Morquio A disease. Am J Med Genet A. 2008;146A(10):1286-95.
38. Montaño AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis. 2007b;30:165-74.
39. Muenzer J, Lamsa JC, Garcia A, Dacosta J, Garcia J, Treco DA. Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report. Acta Paediatr Suppl. 2002;91:98-9.
40. Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu M et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med. 2006;8:465-73.
41. Myrelid A, Gustafsson J, Ollars B, Annerén G. Growth charts for Down's syndrome from birth to 18 years of age. Arch Dis Child. 2002;87:97-103.
42. Nagashima K, Endo H, Sakakibara K, Konishi Y, Miyachi K, Wey JJ, Suzuki Y, Onisawa J. Morphological and biochemical studies of a case of mucopolysaccharidosis II (Hunter's syndrome). Acta Pathol Jpn. 1976;26:115-32.
43. Nelson J. Incidence of mucopolysaccharidoses in Northern Ireland. Hum Genet. 1997;101:355-8.
44. Neufeld E, Muenzer J. The mucopolysaccharidoses Chapter 136. In: Scriver C, editor. Metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. www.ommbid.com Nuttall JD, Brumfield LK, Fazzalari NL, Hopwood JJ, Byers S. Histomorphometric analysis of the tibial growth plate in a feline model of mucopolysaccharidosis type VI. Calcif Tissue Int. 1999;65:47-52.
45. Nysom K, Mølgaard C, Hutchings B, Michaelsen KF. Body mass index of 0 to 45-y-old Danes: reference values and comparison with published European reference values. Int J Obes. 2001;25:177-84.
46. Oda H, Sasaki Y, Nakatani Y, Maesaka H, Suwa S. Hunter's syndrome. An ultrastructural study of an autopsy case. Acta Pathol Jpn. 1988;38:1175-90.
47. Ogden CL, Kuczmarski RJ, Flegal KM, Mei Z, Guo S, Wei R, Grummer-Strawn LM, Curtin LR, Roche AF, Johnson CL. Centers for Disease Control and Prevention 2000 growth charts for the United States: improvements to the 1977 National Center for Health Statistics version. Pediatrics. 2002;109:45-60.
48. Ohashi A, Montaño AM, Colón JE, Oguma T, Luisiri A, Tomatsu T. Sacral dimple: Incidental findings from newborn evaluation. Acta Paediatr. 2009;98:768-9, 910-2.
49. Oliver H, Jameson KA, Sayer AA, Cooper C, Dennison EM. Growth in early life predicts bone strength in late adulthood: the Hertfordshire Cohort Study. Bone. 2007;41:400-405.
50. Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcão A, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sá Miranda MC. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004;12:87-92.
51. Polgreen LE, Tolar J, Plog M, Himes JH, Orchard PJ, Whitley CB, Miller BS, Petryk A. Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation. Bone Marrow Transplant. 2008;41:1005-11.
52. Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999;105:151-6.
53. Ross JL, Sandberg DE, Rose SR, Leschek EW, Baron J, Chipman JJ, Cassorla FG, Quigley CA, Crowe BJ, Roberts K, Cutler GB Jr. Psychological adaptation in children with idiopathic short stature treated with growth hormone or placebo. J Clin Endocrinol Metab. 2004;89:4873-8.
54. Russell C, Hendson G, Jevon G, Matlock T, Yu J, Aklujkar M, Ng KY, Clarke LA. Murine MPS I: insights into the pathogenesis of Hurler syndrome. Clin Genet. 1998;53:349-61.
55. Schwartz IV, Ribeiro MG, Mota JG, Toralles MB, Correia P, Horovitz D, Santos ES, Monlleo IL, Fett-Conte AC, Sobrinho RP, Norato DY, Paula AC, Kim CA, Duarte AR, Boy R, Valadares E, De Michelena M, Mabe P, Martinhago CD, Pina-Neto JM, Kok F, Leistner-Segal S, Burin MG, Giugliani R. A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr Suppl. 2007;96:63-70.
56. Silveri CP, Kaplan FS, Fallon MD, Bayever E, August CS. Hurler syndrome with special reference to histologic abnormalities of the growth plate. Clin Orthop Relat Res. 1991;269:305-11.
57. Simonaro CM, Haskins ME, Schuchman EH. 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;81:1319-28.
58. Simonaro CM, D'Angelo M, Haskins ME, Schuchman EH. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr Res. 2005;57(5 Pt 1):701-7.
59. Simonaro CM, D'Angelo M, He X, Eliyahu E, Shtraizent N, Haskins ME, Schuchman EH. Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. Am J Pathol. 2008;172:112-22.
60. Soper BW, Pung AW, Vogler CA, Grubb JH, Sly WS, Barker JE. Enzyme replacement therapy improves reproductive performance in mucopolysaccharidosis type VII mice but does not prevent postnatal losses. Pediatr Res. 1999;45:180-6.
61. Suzuki Y, Aoyama A, Kato T, Shimozawa N, Orii T. Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotype. J Inherit Metab Dis. 2009;32:582-3.
62. Toledo SP, Costa VH, Fukui RR, Abelin N. Serum growth hormone levels in Hunter's syndrome. Rev Hosp Clin Fac Med Sao Paulo. 1991;46:9-13.
63. Witt DR, Keena BA, Hall JG, Allanson JE. Growth curves for height in Noonan syndrome. Clin Genet. 1986;30:150-3.
64. Zimet GD, Owens R, Dahms W, Cutler M, Litvene M, Cuttler L. Psychosocial outcome of children evaluated for short stature. Arch Pediatr Adolesc Med. 1997;151:1017-23.