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Sly Syndrome

National Organization for Rare Disorders, Inc.

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

  • Beta-Glucuronidase Deficiency
  • MPS Disorder, type VII
  • MPS VII
  • mucopolysaccharidosis type VII
  • GUSB deficiency

Disorder Subdivisions

  • None

General Discussion

Mucopolysaccharidoses, which are also known as mucopolysaccharide storage (MPS) diseases, are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes. The lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities.

Sly syndrome (MPS-VII) is an MPS storage disease caused by a deficiency of the enzyme beta-glucuronidase that leads to an accumulation of dermatan sulfate (DS), heparan sulfate (HS) and chondroitin sulfate (CS) in many tissues and organs of the body including the central nervous system.

The clinical features of Sly syndrome vary from patient to patient, but all have short stature due to growth retardation, changes in bones visible on X-rays and some degree of mental retardation. Survival into adulthood is common with milder cases and osteoarthritis is a common complication.

The symptoms of Sly Syndrome are similar to those of Hurler Syndrome (MPS I) and the other Mucopolysaccharidoses. Symptoms may include mental retardation, short stature with an unusually short trunk, and/or abnormalities of the intestines, corneas of the eyes, and/or the skeletal system. Sly Syndrome is inherited as an autosomal recessive genetic trait.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Internet: http://www.CLIMB.org.uk

Vaincre Les Maladies Lysosomales
2 Ter Avenue
Massy, 91300
France
Tel: 0169754030
Fax: 0160111583
Email: accueil@vml-asso.org
Internet: http://www.vml-asso.org

The Arc
1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org

National MPS Society, Inc.
PO Box 14686
Durham, NC 27709
Tel: (919)806-0101
Fax: (919)806-2055
Tel: (877)677-1001
Email: info@mpssociety.org
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: mps@mpssociety.co.uk
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: info@mpssociety.ca
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: 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 (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 orphan@rarediseases.org

Last Updated:  5/12/2008
Copyright  1986, 1987, 1988, 1990, 1994, 1995, 2003 National Organization for Rare Disorders, Inc.

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