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Diseases

Genetic and Rare Diseases Information Center (GARD)

Mucopolysaccharidosis type I


Other Names for this Disease
  • MPS 1
  • Attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)
  • Severe MPS I (subtype, also known as Hurler syndrome)
  • Hurler syndrome (subtype)
  • Hurler-Scheie syndrome (subtype)
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Overview

Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (GAGs) accumulate within cells called lysosomes. This causes the lysosomes to increase in size, causing many different organs and tissues of the body to become enlarged. This leads to the medical problems seen in the condition.[1][2] 

MPS I was once divided into three separate syndromes: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, listed from most to least severe. Because no biochemical differences have been identified and the clinical findings overlap, the condition is now divided into two subtypes, severe MPS I and attenuated MPS I.[1][2] 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: 2/3/2016

References

  1. Clarke LA, Heppner J. Mucopolysaccharidosis Type I. GeneReviews. February 11, 2016; http://www.ncbi.nlm.nih.gov/books/NBK1162/.
  2. Mucopolysaccharidosis type I. Genetics Home Reference (GHR). December 2012; http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-i.
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Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a 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.

Selected Full-Text Journal Articles

Other Names for this Disease
  • MPS 1
  • Attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)
  • Severe MPS I (subtype, also known as Hurler syndrome)
  • Hurler syndrome (subtype)
  • Hurler-Scheie syndrome (subtype)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.