Important It is possible that the main title of the report Maroteaux Lamy Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
MPS Disorder VI
Maroteaux-Lamy syndrome is a rare genetic metabolic disorder that belongs to a group of disorders known the mucopolysaccharidoses. The disorder is also known as mucopolysaccharidosis (MPS) type VI. Maroteaux-Lamy syndrome occurs in three types: a classic severe type, an intermediate type, and a mild type. The syndrome is characterized by a deficiency in the enzyme arylsulfatase B (also called N- acetylgalactosamine-4-sulfatase), which leads to an excess of dermatan sulfate in the urine.
In general, growth retardation occurs from two to three years of age, with coarsening of facial features and abnormalities in the bones of hands and spine. Joint stiffness also occurs. The intellect is usually normal.
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.
CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, CW2 6BG United Kingdom Tel: 4408452412173 Fax: 4408452412174 Email: firstname.lastname@example.org Internet: http://www.CLIMB.org.uk
Vaincre Les Maladies Lysosomales 2 Ter Avenue Massy, 91300 France Tel: 0169754030 Fax: 0160111583 Email: email@example.com Internet: http://www.vml-asso.org
Lighthouse International 111 E 59th St New York, NY 10022-1202 Tel: (800)829-0500 Email: firstname.lastname@example.org Internet: http://www.lighthouse.org
National MPS Society, Inc. PO Box 14686 Durham, NC 27709 Tel: (919)806-0101 Fax: (919)806-2055 Tel: (877)677-1001 Email: email@example.com Internet: http://www.mpssociety.org
NIH/National Institute of Diabetes, Digestive & Kidney Diseases Office of Communications & Public Liaison Bldg 31, Rm 9A06 31 Center Drive, MSC 2560 Bethesda, MD 20892-2560 Tel: (301)496-3583 Email: NDDIC@info.niddk.nih.gov Internet: http://www2.niddk.nih.gov/
Society for Mucopolysaccharide Diseases MPS House Repton Place White Lion Road Amersham Buckinghamshire, HP7 9LP United Kingdom Tel: 08453899901 Fax: 08453899902 Email: firstname.lastname@example.org Internet: http://www.mpssociety.co.uk
Canadian Society for Mucopolysaccharide and Related Diseases, Inc. PO Box 30034 RPO Parkgate North Vancouver British Columbia, V7H 2Y8 Canada Tel: 6049245130 Fax: 6049245131 Tel: 8006671846 Email: email@example.com Internet: http://www.mpssociety.ca
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
Hide & Seek Foundation for Lysosomal Disease Research 6475 East Pacific Coast Highway Suite 466 Long Beach, CA 90803 Tel: (877)621-1122 Fax: (866)215-8850 Email: firstname.lastname@example.org Internet: http://www.hideandseek.org
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