Mucopolysaccharidosis I
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Mucopolysaccharidosis I (MPS I) is a condition that affects many different parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, many different organs and tissues of the body become enlarged, resulting in various medical problems. This condition is usually divided into two subtypes, severe MPS I and attenuated MPS I. While both types can cause similar symptoms, people with severe MPS I typically have an earlier onset of symptoms, a decline in intellectual function, and a shorter lifespan. Although there is no cure for MPS I, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition.[1]
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- More Information (Found: 7 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Mucopolysaccharidosis I. Click on the link to go to OMIM and review these resources.
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PubMed lists journal articles that discuss Mucopolysaccharidosis I. Click on the link to go to PubMed and review citations to these articles.
- Management Guidelines
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GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- Support Groups (Found: 7 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Disease-Specific Organizations
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Canadian Society for Mucopolysaccharide and Related Diseases Inc. (Canadian MPS Society)
P.O. Box 30034, RPO Parkgate
North Vancouver, BC V7H 2Y8
Canada
Telephone: 604-924-5130
Fax: 604-924-5131
Toll-Free (within Canada): 1-800-667-1846
E-mail:kirsten@mpssociety.ca
Web site: http://www.mpssociety.ca
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National MPS Society
4220 NC Hwy 55, Ste.140
Durham, NC 27713
Toll-free: 877-MPS-1001
Phone: 919-806-0101
Fax: 919-806-2055
Email: info@mpssociety.org
Web site: http://www.mpssociety.org
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Society for Mucopolysaccharide (MPS) Diseases
MPS House Repton Place White Lion Road
Amersham Buckinghamshire
United Kingdom HP7 9LP
Phone: (+44) 0845 389 9901
E-mail: mps@mpssociety.co.uk
Web site: http://www.mpssociety.co.uk
- Live Chat
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Research & Clinical Trials (Found: 1 Resources)
Resources where you may find research studies and clinical trials
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ClinicalTrials.gov lists trials that are studying or have studied Mucopolysaccharidosis I. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- Services (Found: 1 Resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Testing
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GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
- More Search Tools (Found: 1 Resources)
Resources to help you find more information on this topic
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.