Hunter Syndrome

National Organization for Rare Disorders, Inc.

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

  • MPS Disorder II
  • MPS II
  • Mucopolysaccharidosis Type II

Disorder Subdivisions

  • MPS IIA
  • MPS IIB

General Discussion

Hunter syndrome, also known as mucopolysaccharidosis II, is a rare inborn error of metabolism characterized by inadequate production of an enzyme known as iduronate sulfatase, which is needed to break down complex sugars produced in the body. Symptoms include growth delay, joint stiffness, and coarsening of facial features. In severe cases, patients experience respiratory and cardiac problems, enlargement of the liver and spleen, and neurological deficits. The disorder can lead to premature death in severe cases.

Hunter syndrome is one of a group of hereditary metabolic diseases known as the mucopolysaccharidoses (MPS), which in turn are part of a group known as 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, including Hunter syndrome, deficiency or improper functioning of lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates in cells within various tissues, such as the skeleton, joints, brain, spinal cord, heart, spleen, or liver.

Initial symptoms and findings associated with Hunter syndrome usually become apparent in children from two to four years of age. Such abnormalities may include progressive growth delays, resulting in short stature; joint stiffness, with associated restriction of movements; and coarsening of facial features, including thickening of the lips, tongue, and nostrils. Affected children may also have an abnormally large head (macrocephaly), a short neck and broad chest, delayed tooth eruption, progressive hearing loss, and enlargement of the liver and spleen (hepatosplenomegaly). Two relatively distinct clinical forms of Hunter syndrome have been recognized. In the late-onset, mild form of the disease (MPS IIB), intelligence may be normal or only slightly impaired. However, in the early-onset, more severe form (MPS IIA), profound mental retardation may be apparent by late childhood. In addition, slower disease progression tends to occur in those with the mild form of the disorder.

Hunter syndrome is inherited as an X-linked recessive trait. Mild and severe forms of the disorder result from changes (mutations) of a gene (i.e., IDS gene) that regulates production of the iduronate sulfatase enzyme. The IDS gene is located on the long arm (q) of chromosome X (Xq28).

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

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

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/

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3174
Fax: (650)462-3144
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

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

Proyecto Pide un Deseo México, i.a.p.
Altadena #59-501 col. Napoles
delegacion Benito Juarez
03810 Mexico D.F.
Tel: 55 5543-2447
Fax: 55-5543-5450
Email: prayecto.pdeundese.mexico@gmail.com
Internet: http://www.pideundeseo.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:  8/17/2007
Copyright  1986, 1987, 1988, 1990, 1999, 2000, 2001, 2002, 2004, 2006, 2007 National Organization for Rare Disorders, Inc.

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