Maroteaux Lamy Syndrome
National Organization for Rare Disorders, Inc.
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.
- Arylsulfatase-B Deficiency
- MPS type VI
- Mucopolysaccharidosis type VI
- Polydystrophic Dwarfism
- MPS 6
- MPS VI
Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI; MPS VI) is a rare genetic disorder characterized by complete or partial lack of activity of the enzyme arylsulfatase B (also called N-acetylgalactosamine-4-sulfatase). Deficiency or absence of this enzyme activity leads to the accumulation of complex carbohydrates called glycosaminoglycans (previously known as mucopolysaccharides) in the body. Abnormal accumulation of mucopolysaccharides leads to progressive involvement of multiple organ systems. The symptoms and severity of Maroteaux-Lamy syndrome can vary dramatically from one person to another; some individuals only develop mild symptoms, while others develop severe, even life-threatening complications. Common symptoms can include coarse facial features, corneal clouding, joint abnormalities, various skeletal malformations, an abnormally enlarged liver and/or spleen (hepatosplenomegaly), and hearing loss. Cardiac disease and restrictive pulmonary disease can also occur. Intelligence is usually not affected. In 2005, the Food and Drug Administration (FDA) approved the enzyme replacement therapy known as Naglazyme® for the treatment of Maroteaux-Lamy syndrome. Maroteaux-Lamy syndrome occurs due to mutations in the ARSB gene and is inherited as an autosomal recessive disorder.
The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. More than 50 lysosomal storage disorders have been identified so far. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular metabolites, 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 known as 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 MPS. These disorders, with one exception (MPS type II), are inherited in an autosomal recessive manner. Maroteaux-Lamy syndrome was named from the two French physicians who first described this disorder in the medical literature in 1963.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
Vaincre Les Maladies Lysosomales
2 Ter Avenue
111 E 59th St
New York, NY 10022-1202
National MPS Society, Inc.
PO Box 14686
Durham, NC 27709
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
Society for Mucopolysaccharide Diseases
White Lion Road
Buckinghamshire, HP7 9LP
Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 30034
British Columbia, V7H 2Y8
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
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Last Updated: 3/5/2014
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