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Genetic and Rare Diseases Information Center (GARD)

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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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Overview

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]
Last updated: 7/15/2008

References

  1. 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.
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Basic Information

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.

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Other Names for this Disease
  • Alpha-L-Iduronidase deficiency
  • Attenuated MPS I (subtype)
  • Hurler syndrome (former subtype)
  • Hurler-Scheie syndrome (former subtype)
  • IDUA deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.