Mucopolysaccharidosis Type II
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Mucopolysaccharidosis Type II is not the name you expected.
Mucopolysaccharidosis type II (MPS II) is a rare inborn error of metabolism that affects every organ of the body. Although the age of onset, disease severity and the rate of progression of the disease vary significantly, initial symptoms and findings associated with MPS II usually become apparent in children from two to four years of age. Manifestations of MPS II may include joint stiffness, with associated restriction of movements; and coarsening of facial features, including thickening of the lips, tongue (macroglossia), and nostrils. Affected children may also have an abnormally large head (macrocephaly), a short neck and broad chest, delayed tooth eruption, progressive hearing loss, enlargement of the liver and spleen (hepatosplenomegaly), and progressive growth delays resulting in short stature. Two relatively distinct clinical forms of MPS II have been recognized. In the non-neuronopathic form (formerly defined as slowly progressive milder form) of the disease, intelligence may be normal or only slightly impaired. In the neuronopathic for of the disease (formerly called early progressive more severe form), intellectual disabilities may be apparent in the early life of the patient.
MPS II is an X-linked genetic condition that mostly affects males; although a few females have been described as well, and is caused by changes (mutations) of the IDS gene that regulates the production of the iduronate 2-sulfatase enzyme. This enzyme is needed to break-down complex sugars produced in the body.
MPS II is one of a group of hereditary metabolic diseases known as the mucopolysaccharidoses 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 MPS II, deficiency or improper functioning of lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates in cells (mucopolysaccharides, also known as glycosaminoglycans) within various tissues, such as the skeleton, joints, brain, spinal cord, heart, spleen, or liver.
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
- Tel: 4408452412173
- Fax: 4408452412174
- Email: firstname.lastname@example.org
- Website: http://www.CLIMB.org.uk
Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
- #218-2055 Commercial Drive
- Vancouver, BC V5N 0C7
- Tel: (604) 924-5130
- Tel: 1-800-667-1846
- Email: email@example.com
- 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/
Let Them Hear Foundation
- 1900 University Avenue, Suite 101
- East Palo Alto, CA 94303
- Tel: (650)462-3174
- Fax: (650)462-3144
- Email: firstname.lastname@example.org
- Website: http://www.letthemhear.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: email@example.com
- Website: http://www.mpssociety.org
Proyecto Pide un Deseo México, i.a.p.
- Altadena #59-501
- Benito Juárez, 03810
- México, D.F.
- Tel: +52 55 5543-2447
- Fax: 55-5543-5450
- Email: firstname.lastname@example.org
- Website: http://www.pideundeseo.org
Society for Mucopolysaccharide Diseases
- MPS House
- Repton Place
- Buckinghamshire, HP7 9LP
- United Kingdom
- Tel: 03453899901
- Fax: 03453899902
- Email: email@example.com
- Website: http://www.mpssociety.org.uk
- 2603 NW 13th St. #327
- Gainesville, FL 32609
- Email: firstname.lastname@example.org
- Website: http://www.xtraordinaryjoy.org/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.
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.
Last Updated: 6/28/2016
Copyright 2016 National Organization for Rare Disorders, Inc.
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