Morquio Syndrome

Important
It is possible that the main title of the report Morquio 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

Morquio Disease
MPS IV
Mucopolysaccharidosis IV

Disorder Subdivisions

Morquio Syndrome A
Morquio Syndrome B

General Discussion

Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively. A deficiency of either enzyme leads to the accumulation of mucopolysaccharides in the body, abnormal skeletal development, and additional symptoms. In most cases, individuals with Morquio syndrome have normal intelligence. The clinical features of MPS IV-B are usually fewer and milder than those associated with MPS IV-A. Symptoms may include growth retardation, a prominent lower face, an abnormally short neck, knees that are abnormally close together (knock knees or genu valgum), flat feet, abnormal sideways and front-to-back or side-to-side curvature of the spine (kyphoscoliosis), abnormal development of the growing ends of the long bones (epiphyses), and/or a prominent breast bone (pectus carinatum). Hearing loss, weakness of the legs, and/or additional abnormalities may also occur.

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

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info@climb.org.uk
Internet: http://www.CLIMB.org.uk

Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy, 91300
France
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
Email: accueil@vml-asso.org
Internet: http://www.vml-asso.org

National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
PO Box 14686
Durham, NC 27709-4686
Tel: (919)806-0101
Fax: (919)806-2055
Email: info@mpssociety.org
Internet: http://www.mpssociety.org

NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
Tel: (800)891-5389
Email: nddic@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

Society for Mucopolysaccharide Diseases
46 Woodside Road
Amersham
Buckinghamshire, HP6 6AJ
United Kingdom
Tel: 004401494 434156
Fax: 004401494 434252
Email: mps@mpssociety.co.uk
Internet: http://www.mpssociety.co.uk

Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 64714
Unionville
Ontario, Intl L3R OM9
Canada
Tel: 905-479-8701
Fax: 905-479-8701
Tel: 800-667-1846
Email: lori.mps@rogers.com
Internet: http://www.mpssociety.ca

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Instituto de Errores Innatos del Metabolismo
Carrera 7 No 43-82
Bogota, Columbia
S.A. Edificio 53 Lab. 305A,
Tel: 50 1 3208320
Fax: 51 1 3384548
Email: abarrera@javeriana.edu.co
Internet: http://www.javeriana.edu.co

Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
Suite 302
North Hollywood, CA 91602-2828
Tel: (818)762-8621
Fax: (818)762-2502
Email: info@hideandseek.org
Internet: http://www.hideandseek.org

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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 orphan@rarediseases.org

Last Updated: 3/31/2008
Copyright 1986, 1987, 1988, 1990, 1995, 2003, 2005 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: March 31, 2008

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