|
Mucopolysaccharidosis II (MPS II)
Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a serious, X-linked recessive disorder caused by a deficiency or absence of the lysosomal enzyme iduronate-2-sulfatase (I2S).1-4 This enzyme is required for degradation of the gylcosaminoglycans dermatan sulfate and heparin sulfate; thus its absence results in a deleterious accumulation of these substance in cells throughout the body.1-3 Hunter syndrome, which occurs at a rate of at least 1 in 162,000 live births, is one of a group of hereditary metabolic diseases known collectively as lysosomal storage disorders.4
MPS Patient Organizations
As awareness of MPS II grows, so does the number of groups that support people with MPS II and others living with genetic disorders. The list below includes many of these groups:
Australia
MPS Society
Mucopolysaccharide & Related Diseases Society Aust. Ltd
Tel: 612 9476 8411
Fax: 612 9476 8422
www.mpssociety.org.au
Hong Kong
Hong Kong Mucopolysaccharidoses and Rare Genetic Diseases Mutual Aid Group
G/F; Wang Lai House
Wang Tau Hom Estate, Kowloon, Hong Kong
Tel: 852-2794-3010
Email: mps@hk-mps.com
www.hk-mps.com
Japan
Japanese Society of the Patients and the Families with Mucopolysaccharidoses
2-7-15-7-310 Fusou, Oyama-shi
Tochigi 323-0016
Tel: 81-285-22-6643
Fax: 81-285-22-6643
Email: mpsjapan_office@yahoo.co.jp
www.mps-japan.org
Philippines
Philippine Society for Orphan Disorders, Inc.
GD-3 Pacific Center
San Miguel Avenue, Ortigas
1605 Pasig City, Philippines
Tel: 632 6364675
Fax: 632 6364675
Email: info@psod.org.ph
www.psod.org.ph
Malaysia
Malaysian Metabolic Society
Klinik Metabolik & Genetik
Institut Pediatrick, Hospital Kuala Lumpur
50586 Jalan Pahang
Kuala Lumpur, Malaysia
www.mms.org.my
New Zealand
Lysosomal Diseases New Zealand (LDNZ)
PO Box 38-538
Petone, 125 Cuba St
Petone, New Zealand
Tel: 64 4 566 7707
Fax: 64 4 566 7717
Email: john.forman@xtra.co.nz
www.ldnz.org.nz
South Korea
Korea MPS Association
2nd Fl., Donyang Printing Building
775-4, Keumjeong Dong
Kunpo City, Kyunggi-Do, Korea
Tel: 82-31-397-6928
www.mps.or.kr
Taiwan
Taiwan Foundation for Rare Diseases
10F, No. 52, Sec. 2
Chung Shan N. Rd.
Taipei 104, Taiwan
Tel: 886-2-25210717
Fax: 886-2-25673560
www.tfrd.org.tw
Taiwan MPS Society
2F.,No.5,Lane 42
Da-Chi St.,Ban-Chao City
Taipei County,Taiwan
Tel: +886-2-25032125
Email:tsaivirginia@yahoo.com.tw
www.tacocity.com.tw/cks49
References
1. Froissart R, Moreira da Silva I, Guffon N, Bozon D, Maire I. Mucopolysaccharidosis type II-genotype/phenotype aspects. Acta Paediatr Suppl. 2002;439:82-87.
2. Kolodny EH, Lebron D. Storage diseases of the reticuloendothelial system. In: Nathan DG, Orkin SH, Oski FA, eds. Nathan and Oski's Hematology of Infancy and Childhood. 5th ed. Philadelphia, Pa:WB Saunders Co; 1998:1461-1507.
3.Vellodi A,Young E, Cooper A, Lidchi V,Winchester B,Wraith JE. Long-term follow-up following bone marrow transplantation for Hunter disease. J Inher Metab Dis. 1999:22:638-648.
4. Hunter Syndrome. National Organization for Rare Disorders. Available at: www.rarediseases.org. Accessed January 31, 2006.
5. Neufeld EF, Muenzer J.The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:3421-3452.
|
ホーム
