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Copyright 1989, 1997, 2003, 2004
NORD is grateful to Deborah Marsden, Chief of Endocrinology and Metabolism at Children’s Hospital of Boston, for assistance in the preparation of this report.
Synonyms of Mucopolysaccharidoses
Disorder Subdivisions
- MPS 1 H/S (Hurler/Scheie Syndrome)
- MPS I H (Hurler Disease)
- MPS II-(Hunter Syndrome)
- MPS III A, B, C, and D (Sanfillipo Syndrome)
- MPS I S (Scheie Syndrome)
- MPS IV A and B (Morquio Syndrome)
- MPS IX (Hyaluronidase Deficiency)
- MPS VIII (obsolete)
- MPS VII (Sly Syndrome)
- MPS VI (Maroteaux-Lamy Syndrome)
- MPS V (obsolete)
General Discussion
The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS disorders, deficiency or malfunction of specific lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth. These accumulations may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow. This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body. There are several different types and subtypes of mucopolysaccharidosis. These disorders, with one exception, are inherited as autosomal recessive traits.
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Organizations related to Mucopolysaccharidoses
- Belgian Association for Metabolic Diseases (BOKS)
Alice Nahonlann 7
Melsele None 9120
Phone #: 323-775-4839
800 #: N/A
e-mail: info@boks.be
Home page: http://www.boks.be
- Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 64714
Unionville
Ontario Intl L3R OM9
Phone #: 905--47-9-8701
800 #: 800--66-7-1846
e-mail: lori.mps@rogers.com
Home page: http://www.mpssociety.ca
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Gesellschaft fur Mukopolysaccharidosen und ahuliche Erkrankungen
Finklham 90
Breitenaich Intl 4075
Phone #: ++4-3-7-249-47795
800 #: --
e-mail: office@mps-austria.at
Home page: http://www.mps-austria.at/index.asp
- Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach CA 90803
Phone #: 877-621-1122
800 #: N/A
e-mail: info@hideandseek.org
Home page: http://www.hideandseek.org
- Instituto de Errores Innatos del Metabolismo
Carrera 7 No 40 - 62
Bogota None None
Phone #: (57-1) -3208320
800 #: N/A
e-mail: abarrera@javeriana.edu.co
Home page: http://www.javeriana.edu.co
- Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto CA 94303
Phone #: 650-462-3143
800 #: 877-735-2929
e-mail: info@letthemhear.org
Home page: http://www.letthemhear.org
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: --
e-mail: NDDIC@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
- National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
PO Box 14686
Durham NC 27709-4686
Phone #: 919-806-0101
800 #: --
e-mail: info@mpssociety.org
Home page: http://www.mpssociety.org
- Sanfilippo Foundation Switzerland
c/o Nat Services SA- 2 Rue de jargonnant - Case Postale 6045
1211 Geneva 6
None None None
Phone #: +41- 78- 720 73 17
800 #: N/A
e-mail: info@fondation-sanfilippo.ch
Home page: http://www.sanfilippo-foundation.org
- Society for Mucopolysaccharide Diseases
MPS House
Repton Place
White Lion Road
Amersham
Buckinghamshire None HP7 9LP.
Phone #: 004-401-494 434156
800 #: --
e-mail: mps@mpssociety.co.uk
Home page: http://www.mpssociety.co.uk
- Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy None 91300
Phone #: 01 -69 -75 40 30
800 #: --
e-mail: accueil@vml-asso.org
Home page: http://www.vml-asso.org
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