Mucopolysaccharidoses and other lysosomal storage diseases

Rheumatic Disease Clinics of North America

Volumn 39, Issue 2, 2013, Pages 431-455

  Lampe, Christina ^a   Bellettato, Cinzia Maria ^b   Karabul, Nesrin ^a   Scarpa, Maurizio ^b  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b UNIVERSITY OF PADOVA   (Italy)

Author keywords

Carpal tunnel syndrome; Dysostosis multiplex; Hip dysplasia; Joint contractures; Joint stiffness; Lysosomal storage diseases; Mucopolysaccharidosis

Indexed keywords

ANTIDEPRESSANT AGENT; ANTIINFLAMMATORY AGENT; CARBAMAZEPINE; ENZYME; PREGABALIN; STEROID;

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARM MALFORMATION; BONE RADIOGRAPHY; CARPAL TUNNEL SYNDROME; CLINICAL FEATURE; DISEASE COURSE; DRUG EFFICACY; DRUG SAFETY; EARLY DIAGNOSIS; ENZYME REPLACEMENT; EXERCISE; FABRY DISEASE; FARBER DISEASE; FOOT MALFORMATION; GAUCHER DISEASE; GROWTH DISORDER; HAND MALFORMATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; HYALURONIDASE DEFICIENCY; HYPERTHERMIC THERAPY; JOINT CONTRACTURE; JOINT LAXITY; JOINT STIFFNESS; LEG MALFORMATION; LYSOSOME STORAGE DISEASE; MAROTEAUX LAMY SYNDROME; MORQUIO SYNDROME; MUCOLIPIDOSIS TYPE 2; MUCOLIPIDOSIS TYPE 3; MUCOPOLYSACCHARIDOSIS; MUCOPOLYSACCHARIDOSIS TYPE 7; NEUROPATHIC PAIN; NONHUMAN; PATHOGENESIS; PREVALENCE; PRIORITY JOURNAL; REVIEW; SANFILIPPO SYNDROME;

BONE DISEASES, METABOLIC; EARLY DIAGNOSIS; HIP CONTRACTURE; HIP JOINT; HUMANS; JOINT DISEASES; JOINTS; LYSOSOMES; MUCOPOLYSACCHARIDOSES; MUSCULOSKELETAL DISEASES; OSTEOCHONDRODYSPLASIAS; OSTEONECROSIS; PAIN; PROGNOSIS;

EID: 84876711812     PISSN: 0889857X     EISSN: 15583163     Source Type: Journal    
DOI: 10.1016/j.rdc.2013.03.004     Document Type: Review

References (104)

1. National Institutes of Health, Office of Rare Disease Research, Rare Diseases and Related Terms. Available at: ,∼. http://rarediseases.info.nih.gov/RareDiseaseList.aspx%3FPageID=1/.
2. Vitner E.B., Platt F.M., Futerman A.H. Common and uncommon pathogenic cascades in lysosomal storage diseases. J Biol Chem 2010, 285:20423-20427.
3. Wilcox W.R. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr 2004, 144:S3-S14.
4. Walkley S.U. Pathogenic cascades in lysosomal disease: why so complex?. J Inherit Metab Dis 2009, 32:181-189.
5. Parkinson-Lawrence E.J., Shandala T., Prodoehl M., et al. Lysosomal storage disease: revealing lysosomal function and physiology. Physiology (Bethesda) 2010, 25(2):102-115.
6. Ballabio A., Gieselmann V. Lysosomal disorders: from storage to cellular damage. Biochim Biophys Acta 2009, 1793:684-696.
7. Wraith J.E. Lysosomal disorders. Semin Neonatol 2002, 7:75-83.
8. Futerman A.H., van Meer G. The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol 2004, 5:554-565.
9. Vellodi A. Lysosomal storagedisorders. Br J Haematol 2005, 128:413-431.
10. Filocamo M., Morrone A. Lysosomal storagedisorders: molecularbasis and laboratorytesting. Hum Genomics 2011, 5(3):156-169.
11. Wenger D.A., Coppola S., Liu S.L. Insightsinto the diagnosis and treatment of lysosomal storagediseases. Arch Neurol 2003, 60:322-328.
12. Aldenhoven M., Sakkers R.J., Boelens J., et al. Musculoskeletalmanifestations of lysosomal storagedisorders. Ann Rheum Dis 2009, 68(11):1659-1665.
13. Baehner F., Schmiedeskamp C., Krummenauer F., et al. Cumulative incidence rates of themucopolysaccharidoses in Germany. J Inherit Metab Dis 2005, 28(6):1011-1017.
14. Clarke L.A. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev Mol Med 2008, 10:e1.
15. Clarke L.A. Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator. Rheumatology (Oxford) 2011, 50(Suppl 5):v13-v18.
16. Coutinho M.F., Lacerda L., Alves S. Glycosaminoglycan storage disorders: a review. Biochem Res Int 2012, 2012:471325. 10.1155/2012/471325.
17. Kloska A., Tylki-Szymańska A., Wegrzyn G. Mucopolysaccharidoses-biochemical mechanisms of diseases and therapeutic possibilities. Postepy Biochem 2011, 57(2):133-147. [in Polish].
18. Guarany N.R., Schwartz I.V., Guarany F.C., et al. Functional capacity evaluation of patients with mucopolysaccharidosis. J Pediatr Rehabil Med 2012, 5(1):37-46.
19. Cimaz R., Coppa G.V., Koné-Paut I., et al. Joint contractures in the absence ofinflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J 2009, 7:18.
20. Simonaro C.M., D'Angelo M., He X., et al. Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. Am J Pathol 2008, 172(1):112-122.
21. Simonaro C.M., Ge Y., Eliyahu E., et al. Involvement ofthe Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses. Proc Natl Acad Sci U S A 2010, 107(1):222-227.
22. Pastores G. Musculoskeletal complications encountered in the lysosomal storage disorders. Best Pract Res Clin Rheumatol 2008, 22:937-947.
23. Wilson S., Hashamiyan S., Clarke L., et al. Glycosaminoglycan-mediated loss of cathepsin K collagenolytic activity in MPS I contributes to osteoclast and growth plate abnormalities. Am J Pathol 2009, 175:2053-2062.
24. Coppa G.V. Why should rheumatologists be aware of the mucopolysaccharidoses?. Rheumatology (Oxford) 2011, 50(Suppl 5):v1-v3.
25. White K.K., Sousa T. Mucopolysaccharide disorders in orthopaedic surgery. J Am Acad Orthop Surg 2013, 21(1):12-22.
26. Vijay S., Wraith J.E. Clinical presentation and follow-up of patients with the attenuated phenotype of Mucopolysaccharidosis type I. Acta Paediatr 2005, 94:872-877.
27. Lampe C. Attenuated mucopolysaccharidosis: are you missing this debilitating condition?. Rheumatology (Oxford) 2012, 51(3):401-402.
28. Lachman R., Martin K.W., Castro S., et al. Radiologic and neuroradiologic findings in the mucopolysaccharidoses. J Pediatr Rehabil Med 2010, 3(2):109-118.
29. Beck M., Muenzer J., Scarpa M. Evaluation of disease severity in mucopolysaccharidoses. J Pediatr Rehabil Med 2010, 3(1):39-46.
30. Morishita K., Petty R.E. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology (Oxford) 2011, 50(Suppl 5):v19-v25.
31. Wraith J.E. The clinical presentation of lysosomal storage disorders. Acta Neurol Taiwan 2004, 13(3):101-106.
32. Polgreen L.E., Miller B.S. Growth patterns and the use of growth hormone in the mucopolysaccharidoses. J Pediatr Rehabil Med 2010, 3(1):25-38.
33. Cimaz R., Vijay S., Haase C., et al. Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome. Clin Exp Rheumatol 2006, 24:196-202.
34. Neufeld E.U., Muenzer J. The mucopolysaccharidoses. The metabolic and molecular bases of inherited disease 2001, 3421-3452. McGraw-Hill, New York. C.R. Scriver (Ed.).
35. Jimeno-Ruiz S., Martín-Molina R., García-Pérez A., et al. Carpal tunnel syndrome in childhood. Neurologia 2009, 24(10):849-855. [in Spanish].
36. Van Meir N., De Smet L. Carpal tunnel syndrome in children. Acta Orthop Belg 2003, 69:387-395.
37. Al-Qatan M.M., Thomson H.G., Clarke H.M. Carpal tunnel syndrome in children and adolescents with no history of trauma. J Hand Surg Br 1996, 21:108-111.
38. White K., Kim T., Neufeld J.A. Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses. J Pediatr Rehabil Med 2010, 3(1):57-62.
39. Yuen A., Dowling G., Johnstone B., et al. Carpal tunnel syndrome in children with mucopolysaccaridoses. J Child Neurol 2007, 22:260-263.
40. Meyer-Marcotty M.V., Kollewe K., Dengler R., et al. Carpal tunnel syndrome in children with mucopolysaccharidosis type 1H: diagnosis and therapy in an interdisciplinary centre. Handchir Mikrochir Plast Chir 2012, 44(1):23-28. [in German].
41. Haddad F.S., Jones D.H., Vellodi A., et al. Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses. J Bone Joint Surg Br 1997, 79:576-582.
42. Haddad F.S., Hill R.A., Jones D.H. Triggering in the mucopolysaccharidoses. J Pediatr Orthop B 1998, 7:138-140.
43. Mankin H.J., Jupiter J., Trahan C.A. Hand and foot abnormalities associated with genetic diseases. Hand (N Y) 2011, 6(1):18-26.
44. Chen S.J., Li Y.W., Wang T.R., et al. Bony changes in common mucopolysaccharidoses. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1996, 37:178-184.
45. Montaño A.M., Tomatsu S., Gottesman G.S., et al. International Morquio A Registry: clinical manifestations and natural course of Morquio A disease. J Inherit Metab Dis 2007, 30:165-174.
46. Mikles M., Stanton R.P. A review of Morquio syndrome. Am J Orthop 1997, 26:533-540.
47. Lehman T.J., Miller N., Norquist B., et al. Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford) 2011, 50(Suppl 5):v41-v48.
48. Civallero G., Bender F., Gomes A., et al. Reliable detection of mucopolysacchariduria in dried-urine filter paper samples. Clin Chim Acta 2013, 415:334-336.
49. Brusius-Facchin A.C., Kubaski F., Giugliani R., et al. Important aspects in the molecular diagnosis of mucopolysaccharidoses. J Inherit Metab Dis 2012, [Epub ahead of print].
50. Wang R.Y., Bodamer O.A., Watson M.S., et al. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med 2011, 13(5):457-484. ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases.
51. de Ruijter J., de Ru M.H., Wagemans T., et al. Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III. Mol Genet Metab 2012, 107(4):705-710.
52. Zhang H., Young S.P., Millington D.S. Quantification of glycosaminoglycans in urine by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry. Curr Protoc Hum Genet 2013, 17. Unit17.12.
53. Valayannopoulos V., Wijburg F.A. Therapy for the mucopolysaccharidoses. Rheumatology (Oxford) 2011, 50(Suppl 5):v49-v59.
54. Peters C. Hematopoietic cell transplantation for storage diseases. Hematopoietic stem cell transplantation 2004, 1455-1470. Blackwell Science, Malden (MA). K.G. Blume, S.J. Forman, F.R. Appelbaum (Eds.).
55. McGill J.J., Inwood A.C., Coman D.J., et al. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age-a sibling control study. Clin Genet 2010, 77:492-498.
56. Schulze-Frenking G., Jones S.A., Roberts J., et al. Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II. J Inherit Metab Dis 2011, 34:203-208.
57. Ohashi T. Enzyme replacement therapy for lysosomal storage diseases. Pediatr Endocrinol Rev 2012, 10(Suppl 1):26-34.
58. Wraith J.E. Enzyme replacement therapy for the management of the mucopolysaccharidoses. Int J Clin Pharmacol Ther 2009, 47(Suppl 1):S63-S65.
59. de Ru M.H., Boelens J.J., Das A.M., et al. 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.
60. de Ru M.H., Teunissen Q.G., van der Lee J.H., et al. Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis 2012, 7:22.
61. D'Aco K., Underhill L., Rangachari L., et al. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr 2012, 171(6):911-919.
62. White K.K. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford) 2011, 50(Suppl 5):v26-v33.
63. Muenzer J., Beck M., Eng C.M., et al. Multidisciplinary management of Hunter syndrome. Pediatrics 2009, 124(6):e1228-e1239.
64. Muenzer J., Wraith J.E., Clarke L.A. International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 2009, 123(1):19-29.
65. Zarate Y.A., Hopkin R.J. Fabry's disease. Lancet 2008, 372:1427-1435.
66. Pinto L.L., Vieira T.A., Giugliani R., et al. Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review. Orphanet J Rare Dis 2010, 5:14.
67. Germain D.P. Fabry disease. Orphanet J Rare Dis 2010, 5:30.
68. Ramaswami U., Parini R., Pintos-Morell G. Natural history and effects of enzyme replacement therapy in children and adolescents with Fabry disease. Fabry disease: perspectives from 5 Years of FOS 2006, Oxford Pharma Genesis, Oxford, Chapter 31. A. Mehta, M. Beck, G. Sunder-Plassmann (Eds.).
69. Ries M., Gupta S., Moore D.F., et al. Pediatric Fabry disease. Pediatrics 2005, 115(3):e344-e355.
70. Germain D.P., Benistan K., Boutouyrie P., et al. Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease. Clin Genet 2005, 68(1):93-95.
71. Mersebach H., Johansson J.O., Rasmussen A.K., et al. Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density. Genet Med 2007, 9(12):812-818.
72. Burlina A.P., Sims K.B., Politei J.M., et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol 2011, 11:61.
73. Charrow J., Andersson H.C., Kaplan P., et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000, 160(18):2835-2843.
74. Elstein D., Abrahamov A., Dweck A., et al. Gaucher disease: pediatric concerns. Paediatr Drugs 2002, 4(7):417-426.
75. Kaplan P., Andersson H.C., Kacena K.A., et al. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 2006, 160(6):603-608.
76. Bembi B., Ciana G., Mengel E., et al. Bone complications in children with Gaucher disease. Br J Radiol 2002, 75(Suppl 1):A37-A44.
77. Andersson H., Kaplan P., Kacena K., et al. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics 2008, 122(6):1182-1190.
78. Wenstrup R.J., Roca-Espiau M., Weinreb N.J., et al. Skeletal aspects of Gaucher disease: a review. Br J Radiol 2002, 75(Suppl 1):A2-A12.
79. Roca Espiau M. Bone disease in Gaucher's disease. Med Clin (Barc) 2011, 137(Suppl 1):23-31. [in Spanish].
80. Brisca G., Di Rocco M., Picco P., et al. Coxarthritis as the presenting symptom of Gaucher disease type 1. Arthritis 2011, 2011:361279.
81. Mistry P.K., Weinreb N.J., Kaplan P., et al. Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis 2011, 46(1):66-72.
82. Guggenbuhl P., Grosbois B., Chalès G. Gaucher disease. Joint Bone Spine 2008, 75(2):116-124.
83. Wijburg F.A. Early recognition and diagnosis of treatable lysosomal storage disorders. Eur Obstet Gynaecol 2006, 1-7.
84. Tomatsu S., Montaño A.M., Ohashi A., et al. Enzyme replacement therapy in a murine model of Morquio A syndrome. Hum Mol Genet 2008, 17(6):815-824.
85. Tomatsu S., Vogler C., Montaño A.M., et al. Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. Mol Genet Metab 2007, 91(3):251-258.
86. Brautbar A., Elstein D., Pines B., et al. Fibromyalgia and Gaucher's disease. QJM 2006, 99(2):103-107.
87. Tsai L.K., Chien Y.H., Yang C.C., et al. Myopathy in Gaucher disease. J Inherit Metab Dis 2008, [Epub ahead of print].
88. Dweck A., Rozenman J., Ronen S., et al. Uveitis in Gaucher disease. Am J Ophthalmol 2005, 140(1):146-147.
89. vom Dahl S., Niederau C., Häussinger D. Loss of vision in Gaucher's disease and its reversal by enzyme-replacement therapy. N Engl J Med 1998, 338(20):1471-1472.
90. Moser H.W., Linke I., Fensom A.H., et al. The metabolic and molecular bases of inherited disease 2001, 3573-3585. McGraw-Hill, New York. 8th edition. C.R. Scriver (Ed.).
91. Tylki-Szymańska A., Czartoryska B., Groener J.E., et al. Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). Am J Med Genet 2002, 108(3):214-218.
92. David-Vizcarra G., Briody J., Ault J., et al. The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health 2010, 46(6):316-322.
93. Cathey S.S., Leroy J.G., Wood T., et al. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet 2010, 47(1):38-48.
94. Bach G. Mucolipidosis type IV. Mol Genet Metab 2001, 73(3):197-203.
95. Robinson C., Baker N., Noble J., et al. The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. J Inherit Metab Dis 2002, 25(8):681-693.
96. Jameson R.A., Holt P.J., Keen J.H. Farber's disease (lysosomal acid ceramidase deficiency). Ann Rheum Dis 1987, 46(7):559-561.
97. Ehlert K., Frosch M., Fehse N., et al. Farber disease: clinical presentation, pathogenesis and a new approach to treatment. Pediatr Rheumatol Online J 2007, 5:15.
98. Willems P.J., Gatti R., Darby J.K., et al. Fucosidosis revisited: a review of 77 patients. Am J Med Genet 1991, 38(1):111-131.
99. Menéndez-Sainz C., González-Quevedo A., González-García S., et al. High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. Genet Mol Res 2012, 11(3):2352-2359.
100. Malm D., Nilssen Ø. Alpha-mannosidosis. Orphanet J Rare Dis 2008, 3:21.
101. Gerards A.H., Winia W.P., Westerga J., et al. Destructive joint disease in alpha-mannosidosis. A case report and review of the literature. Clin Rheumatol 2004, 23(1):40-42.
102. DeFriend D.E., Brown A.E., Hutton C.W., et al. Mannosidosis: an unusual cause of a deforming arthropathy. Skeletal Radiol 2000, 29(6):358-361.
103. Vellodi A., Cragg H., Winchester B., et al. Allogeneic bone marrow transplantation for fucosidosis. Bone Marrow Transplant 1995, 15(1):153-158.
104. Miano M., Lanino E., Gatti R., et al. Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation. Bone Marrow Transplant 2001, 27(7):747-751.