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Review

Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)

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Pages 295-307 | Received 02 Dec 2016, Accepted 15 Feb 2017, Published online: 08 Mar 2017

References

  • Hunter C. A rare disease in two brothers. Proc R Soc Med. 1917;10:104–106.
  • Brante G. Gargoylism–A mucopolysaccharidosis. Scand J Clin Lab Invest. 1952;4(1):43–46.
  • Teller WM, Burke EC, Rosevear JW, et al. Urinary excretion of acid mucopolysaccharides in normal children and patients with gargoylism. J Lab Clin Med. 1962;59(1):95–101.
  • Neufeld EF, Fratantoni JC. Inborn errors of mucopolysaccharide metabolism. Science. 1970;169(3941):141–146.
  • Bach G, Eisenberg F Jr, Cantz M, et al. The defect in the Hunter Syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci. 1973;70(7):2134–2138.
  • Hugh-Jones K, Hobs JR, Chambers D, et al. Bone marrow transplantation in mucopolysaccharidoses. In: Barranger JA, Brady RO Eds. Molecular basis of lysosomal storage disorders. Orlando: Academic Press Inc; 1984. p. 411–425.
  • Vellodi A, Young E, Cooper A, et al. Long-term follow-up following bone marrow transplantation for Hunter disease. JIMD. 1999;22:638–648.
  • Wilson PJ, Morris CP, Anson DS, et al. Hunter Syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci. 1990;87(21):8531–8535.
  • Muenzer J, Wraith JE, Beck M, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (hunter syndrome). Genet Med. 2006;8:465–473.
  • Clarke JT, Willard HF, Teshima I, et al. Hunter disease (mucopolysaccharidosis type II) in a karyotipically normal girl. Clin Genet. 1990;37:355–362.
  • Clarke JT, Wilson PJ, Morris CP, et al. Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome. Am J Hum Genet. 1992;51(2):316–322.
  • Neufeld EF, Liebaers I, Epstein CJ, et al. The hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet. 1977;29(5):455.
  • Winchester B, Young E, Geddes S, et al. Female twin with Hunter disease due to nonrandom inactivation of the of the X-chromosome: A consequence of twinning. Am J Med Genet. 1992;44:834–838.
  • Sukegawa K, Matsuzaki T, Fukuda S, et al. Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation. Clin Genet. 1998;53(2):96–101.
  • Sukegawa K, Song XQ, Masumo M, et al. Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele. Hum Mutat. 1997;10:361–367.
  • Martin R, Beck M, Eng C, et al. Recognition and diagnosis of Mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008;121:377–386.
  • Tuschl K, Gal A, Paschke E, et al. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol. 2005;32(24):270–272.
  • Kloska A, Jakobkiewicz- Banecka, Tylki-Szymanska A, et al. Female Hunter syndrome caused by a single mutation and familial XCl skewing: implications for other X-linked disorders. Clin Genet. 2011;80(5):459–465.
  • Tomatsu S, Fujii T, Fukushi M, et al. Newborn screening and diagnosis of mucopolysaccharidoses. Mol Genet Metab. 2013;110:45–53.
  • Cudry S, Tigaud I, Froissart R, et al. MPS II in females: molecular basis of two different cases. J Med Genet. 2000;37(10):e29–e29.
  • Broadhead DM, Kirk JM, Burt AJ, et al. Full expression of Hunter’s disease in a female with an X chromosome deletion leading to non-random inactivation. Clin Genet. 1986;30:392–398.
  • Xu H, Ren D. Lysosomal physiology. Annu Rev Physiol. 2015;77:57–80.
  • Wrenshall LE, Stevens RB, Cerra FB, et al. Modulation of macrophage and B cell function by glycosaminoglycans. Leukoc Biol. 1999;66:391–400.
  • Li JP, Vlodavsky I. Heparin, heparan sulfate and heparanase in inflammatory reactions. Thromb Haemost. 2009;102:823–828.
  • Constantopoulos G, Dekaban AS. Neurochemistry of the mucopolysaccharidoses: brain lipids and lysosomal enzymes in patients with four types of mucopolysaccharidosis and in normal controls. J Neurochem. 1978;30:965–973.
  • Wraith JE. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child. 1995;72(3):263–267.
  • Krivit W, Sung JH, Shapiro EG, et al. Microglia-the effector cell for reconstitution of the central-nervous-system following bone-marrow transplantation for lysosomal and peroxisomal storage diseases. Cell. 1995;4:385–392.
  • Daniele A, Tomanin R, Villani GR, et al. Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro. Biochim Biophys Acta. 2002;1588:203–209.
  • Muenzer J, Beck M, Giugliani R, et al. Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter outcome survey. Genet Med. 2011;13(2):102–109.
  • Archer LD, Langford-Smith KJ, Bigger BW, et al. Mucopolysaccharide diseases: a complex interplay between neuroinflammation, microglial activation and adaptive immunity. Jimd. 2014;37:1–12.
  • Froissart R, Silva IM, Guffon N, et al. Mucopolysaccharidosis type II–genotype/phenotype aspects. Acta Paediatr. 2002;91(s439):82–87.
  • Tanjuakio J, Suzuki Y, Patel P, et al. Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation. Mol Genet Metab. 2015;114(2):161–169.
  • Holt J, Poe MD, Escolar ML, et al. Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II. J Pediatrics. 2011;159(2):320–326.
  • Patel P, Suzuki Y, Tanaka A, et al. Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome. Mol Genet Metab Rep. 2014;1:184–196.
  • Wraith JE, Scarpa M, Beck M, et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008;167(3):267–277.
  • Muenzer J, Beck M, Eng CM, et al. Multidisciplinary management of Hunter syndrome. Pediatrics. 2009;124(6):e1228–e1239.
  • Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. Am J Neuroradiology. 2013;34(1):5–13.
  • Patel P, Suzuki Y, Maeda M, et al. Growth charts for patients with Hunter syndrome. Mol Genet Metab Rep. 2014;1:5–18.
  • Annibali R, Caponi L, Morganti A, et al. Hunter Syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation. Minerva Pediatrica. 2013;65(5):487–496.
  • Scarpa M, Zsuzsanna A, Beck M, et al. Mucopolysaccharidosis type II: european recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011;6:1–18.
  • Orii T, Suzuki Y, Tomatsu S Educational CD for Hunter syndrome Mucopolysaccharidosis type II - Hunter disease 2005 Page(s): 10, 11, 55, 57, 74, 82, 72,
  • Peck JE. Hearing loss in Hunter syndrome– mucopolysaccharidosis II. Ear Hear. 1984;5:243–246.
  • Taccone A, Tortori DP, Marzoli A, et al. Mucopolysaccharidosis: thickening of dura matter at the craniocervical junction and other CT/MRI findings. Pediatr Radiol. 1993;23(5):349–352.
  • Vedolin L, Schwartz IV, Komlos M, et al. Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings. Neurology. 2007;69(9):917–924.
  • Shinomiya N, Nagayama T, Fujioka Y, et al. MRI in the mild type of mucopolysaccharidosis II (Hunter syndrome). Neuroradiology. 1996;38(5):483–485.
  • Tsivgoulis G, Papathanasiou MA, Krogias C, et al. Neuroimaging findings in Hunter disease. J Neurol Sci. 2014;342(1–2):200–201.
  • Lustmann J, Bimstein E, Yatziv S. Dentigerous cysts and radiolucent lesions of the jaw associated with Hunter’s Syndrome. J Oral Surg (American Dental Association: 1965). 1975;33(9):679.
  • Oussoren E, Brands MMMG, Ruijter GJG, et al. Bone, joint and tooth development in mucopolysaccharidoses: relevance to therapeutic options. Biochimica Biophysica Acta (BBA)-Molecular Basis Disease. 2011;1812(11):1542–1556.
  • Gajula P, Ramalingam K, Bhadrashetty D. A rare case of mucopolysaccharidosis: hunter syndrome. J Nat Science Biol Medicine. 2012;3(1):97–100.
  • Brama I, Gay I, Feinmesser R, et al. Upper airway obstruction in Hunter syndrome. Int J Pediatr Otorhinolaryngol. 1986;11:229–235.
  • Sasaki CT, Ruiz R, Gaito R Jr, et al. Hunter syndrome: a study in airway obstruction. Laryngoscope. 1987;97:280–285.
  • Yoskovitch A, Tewfik TL, Brouillette RT, et al. Acute airway obstruction in Hunter syndrome. Int J Pediatr Otorhinolaryngol. 1998;44:273–278.
  • Leighton SE, Papsin B, Vellodi A, et al. Disordered breathing during sleep in patients with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol. 2001;58:127–138.
  • Gaitini L, Fradis M, Vaida S, et al. Failure to control the airway in a patient with Hunter’s syndrome. J Laryngol Otol. 1998;112:380–382.
  • Braulin EA, Harmatz PR, Scarpa M, et al. Cardiac disease in patients with mucopolysaccharidosis. J Inherit Metab Dis. 2011;34(6):1183–1197.
  • Rigante D, Segni G. Cardiac structural involvement in mucopolysaccharidoses. Cardiology. 2002;98:18–20.
  • Burton BK, Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Paediatr. 2012;171(4):631–639.
  • Jones SA, Almassy Z, Beck M, et al. Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis. 2009;32(4):534–543.
  • Elsner B. Ultrastructure of the rectal wall in Hunter’s syndrome. Gastroenterology. 1970;58(6):856–862.
  • Simonaro CM, D`Angelo M, He X, et al. Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissues diseases. Am J Pathol. 2008;172:112–122.
  • Samet JD, Rusinak D, Grant T. Case 174: hunter syndrome. Radiology. 2011;261(1):321–324.
  • Giugliani R, Villarreal MLS, Valdez CAA, et al. Guidelines for diagnosis and treatment of Hunter syndrome for clinicians in Latin America. Genet Mol Biol. 2014;37(2):315–329.
  • Mahalingam K, Janani S, Priya S, et al. Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives. The Indian J Pediat. 2004;71(1):29–32.
  • Kiselyov K, Jennings JJ, Rbaibi Y, et al. Autophagy, mitochondria and cell death in lysosomal storage diseases. Autophagy. 2007;3:259–262.
  • Alcalde- Martin C, Muro-Tudelilla JM, Cancho-Candela R, et al. First experience of enzyme replacement therapy with idrsulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS). J Med Gen. 2010;51(6):371–377.
  • Kamin W. Diagnosis and management of respiratory involvement in Hunter syndrome. Acta Pædiatrica. 2008;97(s457):57–60.
  • Guffon N, Heron B, Chabrol B, et al. Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study. Orphanet J Rare Dis. 2015;10(1):1.
  • Voznyi YV, Keulemans JL, van Diggelen OP, et al. A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease). Jimd. 2001;24:675–680.
  • Civallero G, Michelin K, de Mari J, et al. Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases. Clinica Chimica Cta. 2006;372(1):98–102.
  • Dean CJ, Bockmann MR, Hopwood JJ, et al. Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples. Clin Chem. 2006;52(6):643–649.
  • Wang D, Wood T, Sadilek M, et al. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots. Clin Chem. 2007;53:137–140.
  • Martin R, Beck M, Eng C, et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008;121(2):e377–e386.
  • Sista R, Eckhardt AE, Wang T, et al. Rapid, single-step assay for Hunter syndrome in dried blood spots using digital microfluidics. Clin Chem Acta. 2011;412:1985–1997.
  • Tolun AA, Graham C, Shi Q, et al. A novel fluorimetric enzyme analysis method for Hunter syndrome using dried blood spots. Mol Genet Metabol. 2012;105:519–521.
  • Giugliani R, Brusius-Facchin AC, de Sounza ACM, et al. Diagnosis and therapy options in mcuopolysaccharidosis II (Hunter syndrome). Expert Opinion on Orphan Drugs. 2016;3:141–150.
  • Verma J, Thomas DC, Kasper DC, et al. Inherited metabolic disorders: efficacy of enzyme assays on dried blood spots for the diagnosis of lysosomal storage disorders. Jimd. 2016;31:1–13.
  • Kumar AB, Masi S, Ghomaschi F, et al. Tandem mass spectrometry has a larger analytical range than fluorescence assays of lysosomal enzymes: application to newborn screening and diagnosis of mucopolysaccharidoses types II, IVA, and VI. Clin Chemistry. 2015;61(11):1363–1371.
  • Fratantoni JC, Hall CW, Neufeld EF. The defect in Hurler’s and Hunter’s syndrome: faulty degradation of mucopolysaccharide. Proc Natl Acad Sci USA. 1968a;60:699–706.
  • Kubaski F, Mason RW, Nakatomi A, et al. Newborn screening for mucopolysaccharidoses: A pilot study of measurement of glycosaminoglycans by tandem mass spectrometry. J Inherit Metab Dis. 2017;40:151–158.
  • Fratantoni JC, Hall C, Neufeld E. Hurler and Hunter syndrome: mutual correction of the defect in cultured fibroblasts. Science. 1968;162(3853):570–572.
  • Chuang CK, Lin SP, Chung SF. Diagnostic screening for Mucopolysaccharidoses by the Dimethylmethylene Blue method and two-dimensional electrophoresis. Chin Med J (Tai Pei). 2001;64:15–22.
  • Swiedler S, Beck M, Bajboui 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(2):144–150.
  • Schwartz IV, Riberiro MG, Mota JG, et al. A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr. 2007;96(s455):63–70.
  • Clarke LA, Hemmelgarn H, Colobong K, et al. Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients. J Inherit Metab Dis. 2012;35(2):355–362.
  • Mabe P, Valiente A, Soto V, et al. Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests. Clinica Chimica Acta. 2004;345(1):135–140.
  • Giugliani R. Mucopolysacccharidoses: from understanding to treatment, a century of discoveries. Genet Mol Biol. 2012;35(4):924–931.
  • de Ruijter J, Ru MH, Wagemans T, et al. Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses type I, II and III. Mol Genet Metab. 2012;107:705–710.
  • Shimada T, Kelly J, LaMarr WA, et al. Novel heparan sulfate assay by using automated high-throughput mass spectrometry: application to monitoring and screening for mucopolysaccharidoses. Mol Genet Metab. 2008;113(1):92–99.
  • Oguma T. Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry.”. Anal Biochemistry368.1. 2007;368:79–86.
  • Tomatsu S, Montano AM, Oguma T, et al. 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(2):124–131.
  • Auray-Blais C, Bhérer P, Gagnon R, et al. Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI. Mol Genet Metab. 2011;102(1):49–56.
  • De Jong JG, Hasselman JJ, van Landeghem AA, et al. The spot test is not a reliable screening procedure for mucopolysaccharidoses. Clin Chem. 1991;37(4):572–575.
  • Gallegos-Arreola MP, Machorro-Lazo MV, Flores-Martı́nez SE, et al. Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses. Arch Med Res. 2000;31(5):505–510.
  • Müller‐Lutz A, Schleich C, Pentang G, et al. Age‐dependency of glycosaminoglycan content in lumbar discs: A 3t gagcEST study. J Magn Reson Imaging. 2015;42(6):1517–1523.
  • Chih‐Kuang C, Shuan‐Pei L, Shyue‐Jye L, et al. MPS screening methods, the berry spot and acid turbidity tests, cause a high incidence of false‐negative results in sanfilippo and morquio syndromes. J Clin Lab Anal. 2002;16(5):253–258.
  • Randall DR, Colobong KE, Hemmelgarn H, et al. Heparin cofactor II–thrombin complex: a biomarker of MPS disease. Mol Genet Metab. 2008;94(4):456–461.
  • Pandey SK, Singh A, Dubey AP, et al. Heparin co-factor II Thrombin complex as a biomarker for mucopolysaccharidosis: indian experience. Indian Pediatr. 2014;51(2):128–130.
  • Tomatsu S, Gutierrez MA, Ishimaru T, et al. Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis. 2005;28(5):743–757.
  • Tomatsu S, Montano AM, Oguma T, et al. Dermatan sulfate and heparin sulfate as a biomarker for mucopolysaccharidosis I. J Inherit Metab Dis. 2010;33:141–150.
  • Oguma T. Analytical method for determination of disaccharides derived from keratan sulfates in human serum and plasma by high‐performance liquid chromatography/turbo‐ionspray ionization tandem mass spectrometry.”. Biomed Chromatogr. 2007;21(4):356–362.
  • Hetmańczyk K, Bednarska-Makaruk M, Kierus K, et al. Monitoring of dipeptidyl peptidase-IV (DPP-IV) activity in patients with mucopolysaccharidoses types I and II on enzyme replacement therapy—results of a pilot study. Clin Biochemistry. 2016;49(6):458–462.
  • Lum SH, Jones SA, Ghosh A, et al. Hematopoietic stem cell transplant for the mucopolysaccharidoses. Expert Opinion Orphan Drugs. 2016;4(4):379–393.
  • Parini G, Naia S, Dall’Amico R, et al. Simple spectrophotometric quantification of urinary excretion of glycosaminoglycan sulfates. Clin Chemistry. 1986;32(11):2073–2076.
  • Lin HY, Lin SP, Chuang CK, et al. Incidence of the mucopolysaccharidoses in Taiwan 1984-2004. Am J Med Genet A. 2009;149A:960–964.
  • Cho SY, Sohn YB, Jin DK. An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS network. Intractable Rare Dis Res. 2014;3(3):79–86.
  • Chen X, Qiu W, Ye J, et al. Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China. J Hum Genet. 2016;61(4):345–349.
  • Baehner F, Schmiedeskamp C, Krummenauer F, et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis. 2005;28(6):1011–1017.
  • Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in the Netherlands. Hum Genet. 1999;105(1–2):151–156.
  • Pinto LLC, Vieira TA, 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(1):1.
  • Clarke LA. Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator. Rheumatology. 2011;50:v13–v18.
  • Polgreen LE, Vehe RK, Rudser K, et al. Elevated TNF-α is associated with pain and physical disability in mucopolysaccharidosis types I, II, and VI. Mol Genet Metab. 2016;117(4):427–430.
  • Simonaro CM, Tomatsu S, Sikora T, et al. Pentosan polysulfate: oral versus subcutaneous injection in mucopolysaccharidosis type I dogs. Plos One. 2016;11(4):e0153136.
  • Frohbergh M, Ge Y, Meng F, et al. Dose responsive effects of subcutaneous pentosan polysulfate injection in mucopolysaccharidosis Type VI rats and comparison to oral treatment. Plos One. 2014;9(6):e100882.
  • Muenzer J, Bodamer O, Burton B, et al. The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus. Eur J Paediatr. 2012;171(2):181–188.
  • Da Silva EMK, Strufaldi MW, Andriolo RB, et al. Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter Syndrome). Cochrane Data Schem Rev. 2011;10:1002.
  • Parini R, Rigbold M, Tedesco L, et al. Enzymatic replacement therapy for Hunter disease: up to 9 years’ experience with 17 patients. Mol Gen Metab Rep. 2015;3:65–74.
  • Noh H, Lee JI. Current and potential therapeutic strategies for mucopolysaccharidoses. J Clin Pharm Ther. 2014;39:215–224.
  • Ekdahl CT, Claasen JH, Bonde S, et al. Inflammation is detrimental for neurogenesis in adult brain. Proc Natl Acad Sci USA. 2003;100:13632–13637.
  • Muenzer J, Hendriksz CJ, Fan Z, et al. A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II. Genet Med. 2015;18(1):73–81.
  • Public summary of opinion on orphan designation Iduronate-2-sulfatase for the treatment of mucopolysaccharidosis, type II (Hunter Syndrome). (n.d.). Cited 2016 September 08, Available from http://www.ema.europa.eu/docs/en_GB/document_library/Orphan_designation/2010/10/WC500097957.pdf
  • Warkentin PI, Dixon MS, Schafer I, et al. Bone marrow transplantation in Hunter syndrome: a preliminary report. Birth Defects. 1986;22:31–39.
  • Mullen CA, Thompson JN, Richard LA, et al. Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia. Bone Marrow Transplantation. 2000;25:1093–1099.
  • Sands MS, Davidson BL. Gene therapy for lysosomal storage diseases. Mol Ther. 2006;13:839–849.
  • Prasad VK, Kurtzberg J. Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions. Br J Haematol. 2010;148:356–372.
  • Jung SC, Park ES, Choi EN, et al. Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy. Mol Cells. 2010;30:13–18.
  • Kubaski F, Guha A, Suzuki Y, et al. Hematopoietic stem cell transplantation and ERT for Hunter syndrome. Mol Genet Metab. 2016;117(2):S69.
  • Bergstrom SK, Quinn JJ, Greenstein R, et al. Long term follow-up of a patient transplanted for Hunter’s disease type IIB: a case report and literature review. bone marrow. Transplant. 1994;14(4):653–658.
  • Imaizumi M, Gushi K, Kurobane I, et al. Long-term effects of bone marrow transplantation for inborn errors of metabolism: a study of four patients with lysosomal storage diseases. Acta Paediatrica Japonica. 1994;36:30–36.
  • Tokimasa S, Ohta H, Takizawa S, et al. Umbilical cord-blood transplantations from unrelated donors in patients with inherited metabolic diseases: single- institute experience. Pediatr Transplant. 2008;12(6):672–676.
  • Guffon N, Bertrand Y, Forest I, et al. Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years. J Pediatr. 2009;154:733–737.
  • Tanaka A, OkuyamA T, Suzuki Y, et al. Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan. Mol Genet Metab. 2012;107(3):513–520.
  • Kutzberg J. Early HSCT corrects the skeleton in MPS. Blood. 2015;125:1518–1519.
  • Ito K, Ochiai T, Suzuki H, et al. The effect of hematopoietic stem cell transplant on papules with ‘pebbly ‘appearance in Hunter’s Syndrome. Br J Dermatol. 2004;151(1):207–211.
  • Belinson S, Rothenberg BM, Chopra R, et al. Future research needs for hematopoietic stem-cell transplantation in the pediatric population: identification of future research needs from comparative effectiveness review no. 48 [Internet]. Rockville (MD): Agency for Healthcare Research and Quality (US). 2012 Feb. Future Research Needs Papers, No. 10.
  • Araya K, Sakai N, Mohri I, et al. Localized donor cells in brain of a Hunter I disease patient after cord blood stem cell transplantation. Mol Genet Metab. 2009;98:255–263.
  • Aldenhoven M, Jones SA, Bonney D, et al. Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines. Bio Blood Bone Marrow Transplant. 2015;21:1106–1109.
  • Yokoi T, Yokoi K, Akiyama K, et al. Non-Myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II. Mol Genet Metab. 2016;119(3):232–238.
  • Yokoi K, Akiyama K, Kaneshiro E, et al. Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II. J Inherited Metab Dis. 2015;38(2):333–340.
  • Hong Y, Yu SS, Kim JM, et al. Construction of a high efficiency retroviral vector for gene therapy of Hunter`s syndrome. J Gene Med. 2003;5:18–29.
  • Motas S, Haurigot V, Garcia M, et al. CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter Syndrome). JCI Insight. 2016;1(9):e86696.
  • Hinderer C, Katz N, Louboutin JP, et al. Delivery of an adeno-associated virus vector into CSF attenuates central nervous system disease in mucopolysaccharidosis type II mice. Hum Gene Ther. 2016;11:906–915.
  • Wakabayashi T, Shimada Y, Akiyama K, et al. Hematopoietic stem cell gene therapy corrects neuropathic phenotype in murine model of mucopolysaccharidosis type II. Hum Gene Ther. 2015;26(6):357–366.
  • Yadak R, Torres-Torronteras J, Bogaerts E, et al. OP45–3024: efficient lentiviral vector-mediated hematopoietic stem cell gene therapy in MNGIE mice. Eur J Pediatr Neurol. 2015;19:S15.
  • Eichler FS, Cox TM, Crombez E, et al. Metachromatic Leukodystrophy: an assessment of disease burden. J Child Neurol. 2016;31(13):1457–1463.
  • Derrick-Roberts AL, Panir K, Pyragius CE, et al. Reversal of established bone pathology in MPS VII mice following lentiviral-mediated gene therapy. Mol Genet Metab. 2016;119(3):249–257.
  • Connolly JB. Lentiviruses in gene therapy clinical research. Gene Ther. 2002;9(24):1730–1734.
  • Cardone M, Polito VA, Pepe S, et al. Correction of Hunter syndrome in the MPSII mouse model by AAV2/8 mediated gene delivery. Hum Mol Genet. 2006;15:1225–1236.
  • Biffi A. Gene therapy for lysosomal storage disorders: a good start. Hum Mol Genet. 2016;25:R65–R75.
  • Meneghini V, Frati G, Sala D, et al. Generation of human induced pluripotent stem cell-derived bona-fide neural stem cells for ex vivo gene therapy of metachromatic leukodystrophy. Stem Cells Transl Med. 2016;5(11):1–17.
  • McIntyre C, Roberts ALD, Ranieri E, et al. Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA. Mol Genet Metab. 2008;93(4):411–418.
  • Christianson HC, Svensson KJ, van Kuppevelt TH, et al. Cancer cell exosomes depend on cell-surface heparan sulfate proteoglycans for their internalization and functional activity. PNAS. 2013;110:17380–17385.
  • Cox TM. Substrate reduction therapy for lysosomal storage diseases. Acta Paediatr. 2005;04(s447):69–75.
  • Piotrowska E, Jakobkiewicz-Banecka J, Baranska S, et al. Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression targeted isoflavone therapy for mucopolysaccharidoses. Eur J Hum Genet. 2006;14:846–852.
  • Friso A, Tomanin R, Salvalaio M, et al. Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. Br J Pharmacol. 2010;159(5):1082–1091.
  • Marucha J, Tylki-Szymanska A, Jakobkiewicz- Banecka J, et al. Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression- targeted isoflavone therapy (GET IT). Am J Med Genet. 2011;155(9):2257–2262.
  • Kim K, Dodsworth C, Paras A, et al. High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system. Mol Genet Metab. 2013;109(4):382–385.
  • Mostcot M, Jakobkiewicz- Banecka J, Kloska A, et al. Modulation of expression of genes involved in glycosaminoglycan metabolism and lysosome biogenesis by flavonoids. Sci Rep. 2015;5:1–13.
  • Moskot M, Gabig-Ciminska M, Jakobkiewicz-Banecka J, et al. Cell Cycle is disturbed in mucopolysaccharidosis type II fibroblasts and can be improved by genistein. Gene. 2016;585(1):100–103.
  • Sharma R, Anguela XM, Doyon Y, et al. In vivo genome editing of the albumin locus as a platform for protein replacement therapy. Blood. 2015;126(15):1777–1784.
  • Moores C, Rogers JG, McKenzie IM, et al. Anesthesia for children with mucopolysaccharidoses. Anaesth Intensive Care. 1996;24:459–463.

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