National Organization for Rare Disorders, Inc.
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.
- Beta-Glucuronidase Deficiency
- GUSB deficiency
- MPS Disorder, type VII
- MPS VII
- mucopolysaccharidosis type VII
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
- Tel: 4408452412173
- Fax: 4408452412174
- Email: email@example.com
- Website: http://www.CLIMB.org.uk
Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
- PO Box 30034
- RPO Parkgate
- British Columbia, V7H 2Y8
- Tel: 6049245130
- Fax: 6049245131
- Tel: 8006671846
- Email: firstname.lastname@example.org
- Website: 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
- Website: 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: email@example.com
- Website: http://www.hideandseek.org
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
- Office of Communications & Public Liaison
- Bldg 31, Rm 9A06
- Bethesda, MD 20892-2560
- Tel: (301)496-3583
- Email: NDDIC@info.niddk.nih.gov
- Website: http://www2.niddk.nih.gov/
National MPS Society, Inc.
- PO Box 14686
- Durham, NC 27709
- Tel: (919)806-0101
- Fax: (919)806-2055
- Tel: (877)677-1001
- Email: firstname.lastname@example.org
- Website: http://www.mpssociety.org
Society for Mucopolysaccharide Diseases
- MPS House
- Repton Place
- Buckinghamshire, HP7 9LP
- United Kingdom
- Tel: 8453899901
- Fax: 8453899902
- Email: email@example.com
- Website: http://www.mpssociety.co.uk
- 1825 K Street NW, Suite 1200
- Washington, DC 20006
- Tel: (202)534-3700
- Fax: (202)534-3731
- Tel: (800)433-5255
- Email: firstname.lastname@example.org
- Website: http://www.thearc.org
Vaincre Les Maladies Lysosomales
- 2 Ter Avenue
- Massy, 91300
- Tel: 169754030
- Fax: 160111583
- Email: email@example.com
- Website: http://www.vml-asso.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 firstname.lastname@example.org
Last Updated: 1/17/1970
Copyright 2003 National Organization for Rare Disorders, Inc.
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