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Mucopolysaccharidosis type I
Other Names for this Disease
- Alpha-L-Iduronidase deficiency
- Attenuated MPS I (subtype)
- Hurler syndrome (former subtype)
- Hurler-Scheie syndrome (former subtype)
- IDUA deficiency
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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.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
Last updated: 7/15/2008
- Clarke LA. Mucopolysaccharidosis Type I. Gene Reviews. September 21, 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mps1. Accessed 7/15/2008.
- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- 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.
- 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.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Mucopolysaccharidosis type I. Click on the link to view a sample search on this topic.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.