Mucopolysaccharidosis type II
- MPS II
- Attenuated MPS (subtype; formerly known as mild MPS II)
- Severe MPS II
- Hunter syndrome
- Iduronate 2-sulfatase deficiency
Your QuestionI had two brothers with the severe form of Hunter syndrome and both have passed away. I was never tested to see if I am a carrier, and now my daughter would like to know if she is a carrier. Is there a definitive test to determine if one is a carrier? Who do we contact to be tested?
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There is a wide range in severity of symptoms present in individuals with MPS II. Previously, MPS II was classified as severe and attenuated based on severity. More recently, the terms slowly progressive and early progressive have been suggested. While both types affect many different parts of the body, people with the severe type also experience a decline in intellectual function and a more rapid disease progression. The life expectancy for people with the severe type is 10 to 20 years. Individuals with the less severe type typically live into adulthood and intelligence is not affected. Treatment is focused on managing the signs and symptoms present in each individual.
The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. Click here to link directly to a list of labs conducting carrier screening for MPS II. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
The following online resources can also help you find a genetics professional in your community:
- GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty.
- The University of Kansas Medical Center provides a list of links to genetic centers and clinics, associations, and university genetics departments.
- The American College of Medical Genetics has a Genetics Clinics Database for individuals who wish to locate a U.S. genetics center.
- The American Society of Human Genetics (ASHG) is a professional organization of researchers and clinical geneticists. The ASHG maintains a database of its members, some of whom live outside of the United States. Visit the ASHG site if you are interested in obtaining a list of the geneticists in your country, though some may be researchers only and may not offer medical care.
You can also contact the MPS Society for more information on this condition and genetic testing.
National Mucopolysaccharidoses/Mucolipidoses Society (MPS), Inc
National MPS Society
4220 NC Hwy 55, Ste.140
Durham, NC 27713
Web site: http://www.mpssociety.org
- Martin RA. Mucopolysaccharidosis Type II. Gene Reviews. March 26, 2015; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hunter.
- Mucopolysaccharidoses Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). February 23, 2016; http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm.