Mucopolysaccharidosis type II (hunter syndrome): Clinical picture and treatment

Current Pharmaceutical Biotechnology

Volumn 12, Issue 6, 2011, Pages 861-866

  Beck, Michael ^a  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

Enzyme replacement therapy; Haematopoietic stem cell therapy; Hunter syndrome; Mucopolysaccharidosis type II; Substrate optimization; Substrate reduction; Treatment

Indexed keywords

IDURONATE 2 SULFATASE;

ABDOMINAL PAIN; ARTICLE; COUGHING; DIARRHEA; ENZYME REPLACEMENT; FEVER; GENE INSERTION; HEAD CIRCUMFERENCE; HEADACHE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUNTER SYNDROME; INCIDENCE; NONHUMAN; PALLIATIVE THERAPY; PERCEPTION DEAFNESS; RESPIRATORY TRACT INFECTION; SKIN DISEASE; TREATMENT RESPONSE; UNSPECIFIED SIDE EFFECT; X CHROMOSOMAL INHERITANCE;

ANIMALS; ENZYME REPLACEMENT THERAPY; HUMANS; IDURONATE SULFATASE; MUCOPOLYSACCHARIDOSIS II;

EID: 79956283432     PISSN: 13892010     EISSN: 18734316     Source Type: Journal    
DOI: 10.2174/138920111795542714     Document Type: Article

References (41)

1. Ballabio, A.; Gieselmann, V. Lysosomal disorders: from storage tocellular damage. Biochim. Biophys. Acta, 2009, 1793 (4), 684-696.
2. Constantopoulos, G.; Dekaban, A. S. Neurochemistry of themucopolysaccharidoses: brain lipids and lysosomal enzymes inpatients with four types of mucopolysaccharidosis and in normalcontrols. J. Neurochem., 1978, 30 (5), 965-973.
3. Schwartz, I. V.; Ribeiro, M. G.; Mota, J. G.; Toralles, M.B.; Correia, P.; Horovitz, D.; Santos, E. S.; Monlleo, I. L.; Fett-Conte, A. C.; Sobrinho, R. P.; Norato, D.Y.; Paula, A. C.; Kim, C.A.; Duarte, A. R.; Boy, R.; Valadares, E.; De Michelena, M.; Mabe, P.; Martinhago, C. D.; Pina-Neto, J. M.; Kok, F.; Leistner-Segal, S.; Burin, M. G.; Giugliani, R. A clinical study of 77 patients withmucopolysaccharidosis type II. Acta Paediatr., (Suppl), 2007, 96(455), 63-70.
4. Wraith, J. E.; Beck, M.; Giugliani, R.; Clarke, J.; Martin, R.; Muenzer, J. Initial report from the Hunter Outcome Survey. Genet. Med., 2008, 10 (7), 508-516.
5. Wold, S. M.; Derkay, C. S.; Darrow, D. H.; Proud, V. Role of thepediatric otolaryngologist in diagnosis and management of childrenwith mucopolysaccharidoses. Int. J. Pediatr. Otorhinolaryngol.,2010, 74 (1), 27-31.
6. Demitsu, T.; Kakurai, M.; Okubo, Y.; Shibayama, C.; Kikuchi, Y.; Mori, Y.; Sukegawa, K.; Mizuguchi, M. Skin eruption as thepresenting sign of Hunter syndrome IIB. Clin. Exp. Dermatol.,1999, 24 (3), 179-182.
7. Jones, S. A.; Almassy, Z.; Beck, M.; Burt, K.; Clarke, J. T.; Giugliani, R.; Hendriksz, C.; Kroepfl, T.; Lavery, L.; Lin, S. P.; Malm, G.; Ramaswami, U.; Tincheva, R.; Wraith, J. E. Mortalityand cause of death in mucopolysaccharidosis type II-a historicalreview based on data from the Hunter Outcome Survey (HOS). J.Inherit. Metab. Dis., 2009, 32 (4), 534-543.
8. Martin, R.; Beck, M.; Eng, C.; Giugliani, R.; Harmatz, P.; Munoz, V.; Muenzer, J. Recognition and Diagnosis of MucopolysaccharidosisII (Hunter Syndrome). Pediatrics, 2008, 121 (2),e377-386.
9. Kim, C. H.; Hwang, H. Z.; Song, S. M.; Paik, K. H.; Kwon, E. K.; Moon, K. B.; Yoon, J. H.; Han, C. K.; Jin, D. K. Mutationalspectrum of the iduronate 2 sulfatase gene in 25 unrelated KoreanHunter syndrome patients: identification of 13 novel mutations.Hum. Mutat., 2003, 21 (4), 449-450.
10. Bunge, S.; Rathmann, M.; Steglich, C.; Bondeson, M. L.; Tylki-Szymanska, A.; Popowska, E.; Gal, A. Homologous nonallelicrecombinations between the iduronate-sulfatase gene andpseudogene cause various intragenic deletions and inversions inpatients with mucopolysaccharidosis type II. Eur. J. Hum. Genet.,1998, 6 (5), 492-500.
11. Beck, M.; Steglich, C.; Zabel, B.; Dahl, N.; Schwinger, E.; Hopwood, J. J.; Gal, A. Deletion of the Hunter gene and bothDXS466 and DXS304 in a patient with mucopolysaccharidosistype II. Am. J. Med. Genet., 1992, 44 (1), 100-103.
12. Lin, S. P.; Chang, J. H.; Lee-Chen, G. J.; Lin, D. S.; Lin, H. Y.; Chuang, C. K. Detection of Hunter syndrome (mucopolysaccharidosistype II) in Taiwanese: biochemical and linkagestudies of the iduronate-2-sulfatase gene defects in MPS II patientsand carriers. Clin. Chim. Acta, 2006, 369 (1), 29-34.
13. Poorthuis, B. J.; Wevers, R. A.; Kleijer, W. J.; Groener, J. E.; deJong, J. G.; van Weely, S.; Niezen-Koning, K. E.; van Diggelen, O.P. The frequency of lysosomal storage diseases in The Netherlands.Hum. Genet., 1999, 105 (1-2), 151-156.
14. Baehner, F.; Schmiedeskamp, C.; Krummenauer, F.; Miebach, E.; Bajbouj, M.; Whybra, C.; Kohlschutter, A.; Kampmann, C.; Beck, M. Cumulative incidence rates of the mucopolysaccharidoses inGermany. J. Inherit. Metab. Dis., 2005, 28 (6), 1011-1017.
15. Tuschl, K.; Gal, A.; Paschke, E.; Kircher, S.; Bodamer, O. A.Mucopolysaccharidosis type II in females: case report and reviewof literature. Pediatr. Neurol., 2005, 32 (4), 270-272.
16. Kuratsubo, I.; Suzuki, Y.; Orii, K. O.; Kato, T.; Orii, T.; Kondo, N. Psychological status of patients with mucopolysaccharidosis type IIand their parents. Pediatr. Int., 2009, 51 (1), 41-47.
17. Sasaki, C. T.; Ruiz, R.; Gaito, R., Jr.; Kirchner, J. A.; Seshi, B. Hunter's syndrome: a study in airway obstruction. Laryngoscope,1987, 97 (3 Pt 1), 280-285.
18. Gaitini, L.; Fradis, M.; Vaida, S.; Collins, G.; Croitoru, M.; Somri, M.; Borochovitz, Z.; Golz, A. Failure to control the airway in apatient with Hunter's syndrome. J. Laryngol. Otol., 1998, 112 (4),380-382.
19. Wippermann, C. F.; Beck, M.; Schranz, D.; Huth, R.; Michel-Behnke, I.; Jungst, B. K. Mitral and aortic regurgitation in 84patients with mucopolysaccharidoses. Eur. J. Pediatr., 1995, 154(2), 98-101.
20. Hishitani, T.; Wakita, S.; Isoda, T.; Katori, T.; Ishizawa, A.; Okada, R. Sudden death in Hunter syndrome caused by completeatrioventricular block. J. Pediatr., 2000, 136 (2), 268-269.
21. Ashworth, J. L.; Biswas, S.; Wraith, E.; Lloyd, I. C. Mucopolysaccharidosesand the eye. Surv. Ophthalmol., 2006, 51 (1), 1-17.
22. Schumacher, R. G.; Brzezinska, R.; Schulze-Frenking, G.; Pitz, S. Sonographic ocular findings in patients with mucopolysaccharidosesI, II and VI. Pediatr. Radiol., 2008, 38 (5), 543-550.
23. Krivit, W. Allogeneic stem cell transplantation for the treatment oflysosomal and peroxisomal metabolic diseases. Springer Semin.Immunopathol., 2004, 26 (1-2), 119-132.
24. McKinnis, E. J.; Sulzbacher, S.; Rutledge, J. C.; Sanders, J.; Scott, C. R. Bone marrow transplantation in Hunter syndrome. J.Pediatr., 1996, 129 (1), 145-148.
25. Guffon, N.; Bertrand, Y.; Forest, I.; Fouilhoux, A.; Froissart, R. Bone marrow transplantation in children with Hunter syndrome:outcome after 7 to 17 years. J. Pediatr., 2009, 154 (5), 733-737.
26. Garcia, A. R.; Pan, J.; Lamsa, J. C.; Muenzer, J. Thecharacterization of a murine model of mucopolysaccharidosis II(Hunter syndrome). J. Inherit. Metab. Dis., 2007, 30 (6), 924-934.
27. Garcia, A. R.; DaCosta, J. M.; Pan, J.; Muenzer, J.; Lamsa, J. C. Preclinical dose ranging studies for enzyme replacement therapywith idursulfase in a knock-out mouse model of MPS II. Mol.Genet. Metab., 2007, 91 (2), 183-190.
28. Muenzer, J.; Towle, D.; Calikoglu, M.; McCandllles, S. A phaseI/II clinical study evaluating the safety and clinical activity ofenzyme replacement therapy in Mucopolysaccharidosis II (Huntersyndrome). Am. J. Hum. Genet., 2002, 71, (Suppl. 4), 582.
29. Okuyama, T.; Tanaka, A.; Suzuki, Y.; Ida, H.; Tanaka, T.; Cox, G.F.; Eto, Y.; Orii, T. Japan Elaprase Treatment (JET) study:idursulfase enzyme replacement therapy in adult patients withattenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).Mol. Genet. Metab., 2010, 99 (1), 18-25.
30. Galan-Gomez, E.; Guerrero-Rico, A.; Caceres-Marzal, C.; Zambrano-Castano, M.; Moreno-Tejero, M. L.; Grande-Tejada, A.M.; Fernandez-Hernandez, S.; Vaquerizo-Madrid, J.; Cardesa-Garcia, J. J. Early response to idursulfase treatment in a 3 year-oldboy affected of Hunter syndrome. Eur. J. Med. Genet., 2008, 51(3), 268-271.
31. Manara, R.; Rampazzo, A.; Cananzi, M.; Salviati, L.; Mardari, R.; Drigo, P.; Tomanin, R.; Gasparotto, N.; Priante, E.; Scarpa, M.Hunter syndrome in an 11-year old girl on enzyme replacementtherapy with idursulfase: brain magnetic resonance imagingfeatures and evolution. J. Inherit. Metab. Dis., 2010, [Epub aheadof Print].
32. 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.; Ulbrich, B.; Shinawi, M.; Cleary, M.; Piper, D.; Conway, A. M.; Kimura, A. A phase II/III clinical study of enzyme replacement therapy withidursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet.Med., 2006, 8 (8), 465-473.
33. Munoz-Rojas, M. V.; Vieira, T.; Costa, R.; Fagondes, S.; John, A.; Jardim, L. B.; Vedolin, L. M.; Raymundo, M.; Dickson, P. I.; Kakkis, E.; Giugliani, R. Intrathecal enzyme replacement therapyin a patient with mucopolysaccharidosis type I and symptomaticspinal cord compression. Am. J. Med. Genet. A, 2008, 146A (19),2538-2544.
34. Urayama, A.; Grubb, J. H.; Banks, W. A.; Sly, W. S. Epinephrineenhances lysosomal enzyme delivery across the blood brain barrierby up-regulation of the mannose 6-phosphate receptor. Proc. Natl.Acad. Sci. USA, 2007, 104 (31), 12873-12878.
35. Lu, J. Z.; Hui, E. K.; Boado, R. J.; Pardridge, W. M. Geneticengineering of a bifunctional IgG fusion protein with iduronate-2-sulfatase. Bioconjug. Chem., 2010, 21 (1), 151-156.
36. Shi, N.; Pardridge, W. M. Noninvasive gene targeting to the brain.Proc. Natl. Acad. Sci. USA, 2000, 97 (13), 7567-7572.
37. Kreuter, J. Nanoparticulate systems for brain delivery of drugs.Adv. Drug Deliv. Rev., 2001, 47 (1), 65-81.
38. Platt, F. M.; Neises, G. R.; Dwek, R. A.; Butters, T. D. Nbutyldeoxynojirimycinis a novel inhibitor of glycolipidbiosynthesis. J. Biol. Chem., 1994, 269 (11), 8362-8365.
39. Brown, J. R.; Carroll, R. S.; Duron, S.; Glass, C. A.; Crawford, B.E., Small Molecule Inhibitors of Glycosaminoglycan Biosynthesis:Substrate Optimization Therapy for the Mucopolysaccharidoses. InWORLD Symposium, Miami, FL, 2010.
40. Brown, J. R.; Crawford, B. E.; Esko, J. D. Glycan antagonists andinhibitors: a fount for drug discovery. Crit. Rev. Biochem. Mol.Biol., 2007, 42 (6), 481-515.
41. De Jesus, V. R.; Zhang, X. K.; Keutzer, J.; Bodamer, O. A.; Muhl, A.; Orsini, J. J.; Caggana, M.; Vogt, R. F.; Hannon, W. H. Development and evaluation of quality control dried blood spotmaterials in newborn screening for lysosomal storage disorders.Clin. Chem., 2009, 55 (1), 158-164.