Hunter Syndrome (Mucopolysaccharidosis Type II) Medication

1. Giugliani R. Mucopolysacccharidoses: From understanding to treatment, a century of discoveries. Genet Mol Biol. 2012 Dec. 35 (4 (suppl)):924-31. [QxMD MEDLINE Link].

2. Clarke LA. Idursulfase for the treatment of mucopolysaccharidosis II. Expert Opin Pharmacother. 2008 Feb. 9(2):311-7. [QxMD MEDLINE Link].

3. Brusius-Facchin AC, Abrahão L, Schwartz IV, Lourenço CM, Santos ES, Zanetti A, et al. Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence. Gene. 2013 Sep 10. 526(2):150-4. [QxMD MEDLINE Link].

4. Timms KM, Lu F, Shen Y, et al. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res. 1995 Aug. 5(1):71-8. [QxMD MEDLINE Link].

5. Timms KM, Bondeson ML, Ansari-Lari MA, et al. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 Mar. 6(3):479-86. [QxMD MEDLINE Link].

6. Garcia AR, Pan J, Lamsa JC, Muenzer J. The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome). J Inherit Metab Dis. 2007 Sep 16. [QxMD MEDLINE Link].

7. Friso A, Tomanin R, Alba S, Gasparotto N, Puicher EP, Fusco M, et al. Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts. J Gene Med. 2005 Nov. 7 (11):1482-91. [QxMD MEDLINE Link].

8. Matern D. Newborn screening for lysosomal storage disorders. Acta Paediatr Suppl. 2008 Apr. 97(457):33-7. [QxMD MEDLINE Link].

9. Lowry RB, Applegarth DA, Toone JR, MacDonald E, Thunem NY. An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet. 1990 Aug. 85(3):389-90. [QxMD MEDLINE Link].

10. Schaap T, Bach G. Incidence of mucopolysaccharidoses in Israel: is Hunter disease a "Jewish disease"?. Hum Genet. 1980. 56(2):221-3. [QxMD MEDLINE Link].

11. Young ID, Harper PS. Incidence of Hunter's syndrome. Hum Genet. 1982. 60(4):391-2. [QxMD MEDLINE Link].

12. Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J. Initial report from the Hunter Outcome Survey. Genet Med. 2008 Jul. 10(7):508-16. [QxMD MEDLINE Link].

13. Young ID, Harper PS. The natural history of the severe form of Hunter's syndrome: a study based on 52 cases. Dev Med Child Neurol. 1983 Aug. 25(4):481-9. [QxMD MEDLINE Link].

14. 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 Aug. 51(2):316-22. [QxMD MEDLINE Link].

15. Young ID, Harper PS, Newcombe RG, Archer IM. A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms. J Med Genet. 1982 Dec. 19(6):408-11. [QxMD MEDLINE Link].

16. Young ID, Harper PS. Mild form of Hunter's syndrome: clinical delineation based on 31 cases. Arch Dis Child. 1982 Nov. 57(11):828-36. [QxMD MEDLINE Link].

17. Spranger J, Cantz M, Gehler J, Liebaers I, Theiss W. Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum. Eur J Pediatr. 1978 Aug 17. 129(1):11-6. [QxMD MEDLINE Link].

18. Caruso RC, Kaiser-Kupfer MI, Muenzer J, Ludwig IH, Zasloff MA, Mercer PA. Electroretinographic findings in the mucopolysaccharidoses. Ophthalmology. 1986 Dec. 93(12):1612-6. [QxMD MEDLINE Link].

19. Beck M. Papilloedema in association with Hunter's syndrome. Br J Ophthalmol. 1983 Mar. 67(3):174-7. [QxMD MEDLINE Link].

20. Beck M, Cole G. Disc oedema in association with Hunter's syndrome: ocular histopathological findings. Br J Ophthalmol. 1984 Aug. 68(8):590-4. [QxMD MEDLINE Link].

21. Hobolth N, Pedersen C. Six cases of a mild form of Hunter syndrome in five generations. Three affected males with progeny. Clin Genet. 1978. 20:121.

22. Rozdzynska A, Tylki-Szymanska A, Jurecka A, Cieslik J. Growth pattern and growth prediction of body height in children with mucopolysaccharidosis type II. Acta Paediatr. 2011 Mar. 100(3):456-60. [QxMD MEDLINE Link].

23. Schulze-Frenking G, Jones SA, Roberts J, Beck M, Wraith JE. Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II. J Inherit Metab Dis. 2011 Feb. 34(1):203-8. [QxMD MEDLINE Link]. [Full Text].

24. Kosuga M, Mashima R, Hirakiyama A, Fuji N, Kumagai T, Seo JH, et al. Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase. Mol Genet Metab. 2016 Jul. 118 (3):190-7. [QxMD MEDLINE Link].

25. Isogai K, Sukegawa K, Tomatsu S, et al. Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). J Inherit Metab Dis. 1998 Feb. 21(1):60-70. [QxMD MEDLINE Link].

26. Crotty PL, Braun SE, Anderson RA, Whitley CB. Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression. Hum Mol Genet. 1992 Dec. 1(9):755-7. [QxMD MEDLINE Link].

27. Birot AM, Delobel B, Gronnier P, Bonnet V, Maire I, Bozon D. A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient. Hum Mutat. 1996. 7(3):266-8. [QxMD MEDLINE Link].

28. Hopwood JJ, Bunge S, Morris CP, et al. Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum Mutat. 1993. 2(6):435-42. [QxMD MEDLINE Link].

29. Rathmann M, Bunge S, Beck M, Kresse H, Tylki-Szymanska A, Gal A. Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene. Am J Hum Genet. 1996 Dec. 59(6):1202-9. [QxMD MEDLINE Link].

30. Clarke JT, Willard HF, Teshima I, Chang PL, Skomorowski MA. Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl. Clin Genet. 1990 May. 37(5):355-62. [QxMD MEDLINE Link].

31. Kamin W. Diagnosis and management of respiratory involvement in Hunter syndrome. Acta Paediatr Suppl. 2008 Apr. 97(457):57-60. [QxMD MEDLINE Link].

32. Chmielarz I, Gabig-Ciminska M, Malinowska M, Banecka-Majkutewicz Z, Wegrzyn A, Jakobkiewicz-Banecka J. Comparison of siRNA-mediated silencing of glycosaminoglycan synthesis genes and enzyme replacement therapy for mucopolysaccharidosis in cell culture studies. Acta Biochim Pol. 2012. 59(4):697-702. [QxMD MEDLINE Link].

33. Jurecka A, Krumina Z, Zuber Z, Rózdzynska-Swiatkowska A, Kloska A, Czartoryska B, et al. Mucopolysaccharidosis type II in females and response to enzyme replacement therapy. Am J Med Genet A. 2012 Feb. 158A(2):450-4. [QxMD MEDLINE Link].

34. Burton BK, Jego V, Mikl J, Jones SA. Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis. 2017 Nov. 40 (6):867-874. [QxMD MEDLINE Link].

35. Meikle PJ, Grasby DJ, Dean CJ, et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab. 2006 Aug. 88(4):307-14. [QxMD MEDLINE Link].

36. Vellodi A, Young E, Cooper A, Lidchi V, Winchester B, Wraith JE. Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis. 1999 Jun. 22(5):638-48. [QxMD MEDLINE Link].

37. Mullen CA, Thompson JN, Richard LA, Chan KW. Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia. Bone Marrow Transplant. 2000 May. 25(10):1093-7. [QxMD MEDLINE Link].

38. Martin R, Beck M, Eng C, et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008 Feb. 121(2):e377-86. [QxMD MEDLINE Link].

39. Muenzer J, Gucsavas-Calikoglu M, McCandless SE, Schuetz TJ, Kimura A. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab. 2007 Mar. 90(3):329-37. [QxMD MEDLINE Link].

40. 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 Aug. 8(8):465-73. [QxMD MEDLINE Link].

41. [Guideline] 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 Mar. 167(3):267-77. [QxMD MEDLINE Link].

42. Al Sawaf S, Mayatepek E, Hoffmann B. Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. J Inherit Metab Dis. 2008 Aug. 31(4):473-80. [QxMD MEDLINE Link].

43. Kampmann C, Beck M, Morin I, Loehr JP. Prevalence and characterization of cardiac involvement in hunter syndrome. J Pediatr. 2011 Aug. 159(2):327-331.e2. [QxMD MEDLINE Link].

44. Kwon JY, Ko K, Sohn YB, et al. High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome). Am J Med Genet A. 2011 Jun. 155(6):1329-35. [QxMD MEDLINE Link].

45. Holt J, Poe MD, Escolar ML. Early Clinical Markers of Central Nervous System Involvement in Mucopolysaccharidosis Type II. J Pediatr. 2011 Aug. 159(2):320-326.e2. [QxMD MEDLINE Link].

46. Neufeld EF, Muenzer J. The Mucopolysaccharidoses. The Metabolic Bases of Inherited Disease. 8th ed. McGraw-Hill; 2000. 3421-52.

47. Crowe L, Yaplito-Lee J, Anderson V, Peters H. Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II. Cogn Neuropsychol. 2017 Sep. 34 (6):347-356. [QxMD MEDLINE Link].

Germaine L Defendi, MD, MS, FAAP Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center

Germaine L Defendi, MD, MS, FAAP is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Karl S Roth, MD Retired Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, The Scientific Research Honor Society, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Nancy E Braverman, MS, MD Associate Professor, Department of Human Genetics, McGill University

Nancy E Braverman, MS, MD is a member of the following medical societies: Alpha Omega Alpha, Society for Inherited Metabolic Disorders, Society for the Study of Inborn Errors of Metabolism, American Society of Human Genetics

Disclosure: Nothing to disclose.

Mary Kay Conover-Walker, MSN, PNP Pediatric Nurse Practioner, Institute of Genetic Medicine, Johns Hopkins Hospital

Mary Kay Conover-Walker, MSN, PNP is a member of the following medical societies: American Academy of Allergy Asthma and Immunology and Association of Clinical Research Professionals

Disclosure: Nothing to disclose.

Cydney L Fenton, MD Director, Center for Diabetes and Endocrinology, Akron Children's Hospital

Cydney L Fenton, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, Pediatric Endocrine Society, and The Endocrine Society

Disclosure: Nothing to disclose.

Vinayak Kottoor, MD Resident, Department of Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University Hospital

Disclosure: Nothing to disclose.

William Rogers, MD Chief, Pediatric Endocrinology and Pediatric Clinic, Wilford Hall Medical Center

Disclosure: Nothing to disclose.

What would you like to print?

• Print this section
• Print the entire contents of
• Print the entire contents of article