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.
Synonyms Back to top
- Arylsulfatase-B Deficiency
- MPS Disorder VI
- MPS VI
- Mucopolysaccharidosis VI
- Polydystrophic Dwarfism
Disorder Subdivisions Back to top
General Discussion Back to top
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.
Resources Back to top
Children Living with Inherited Metabolic Diseases (CLIMB)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: 0845 241 2174
Tel: 800 652 3181
Vaincre Les Maladies Lysosomales
2 Ter Avenue
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
111 E 59th St
New York, NY 10022-1202
National MPS Society, Inc.
PO Box 14686
Durham, NC 27709
Blind Children's Fund
6761 W. US 12
PO Box 363
Three Oaks, MI 49128
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.
Tel: 004401494 434156
Fax: 004401494 434252
Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 30034
British Columbia, Intl V7H 2Y8
Tel: (604) 924-5130
Fax: (604) 924-5131
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Hong Kong Mucopolysaccharidoses & Rare Genetic Diseases Mutual Aid Group
G/F Wang Lai House
Wang Tau Hom Estate
Fax: 852 2338 4820
For a Complete Report Back to top
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 4/5/2008
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