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Diseases

Genetic and Rare Diseases Information Center (GARD)

Mucopolysaccharidosis


Other Names for this Disease
  • MPS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Seven distinct forms and numerous subtypes of mucopolysaccharidosis have been identified. Associated signs and symptoms and the severity of the condition vary significantly by form. In general, most affected people appear healthy at birth and experience a period of normal development, followed by a decline in physical and/or mental function. As the condition progresses, it may affect appearance; physical abilities; organ and system functioning; and, in most cases, cognitive development. The underlying genetic cause varies by form. Most cases are inherited in an autosomal dominant manner, although one specific form (Type II) follows an X-linked pattern of inheritance. Treatment is based on the signs and symptoms present in each person.[1][2][3]

For more specific information about the various forms of mucopolysaccharidosis, please click on the links below:
Mucopolysaccharidosis, Type I
Mucopolysaccharidosis, Type II
Mucopolysaccharidosis, Type III
Mucopolysaccharidosis, Type IV
Mucopolysaccharidosis, Type VI
Mucopolysaccharidosis, Type VII
Mucopolysaccharidosis, Type IX
Last updated: 5/24/2016

References

  1. Mucopolysaccharidoses Fact Sheet. National Institute of Neurological Disorders and Stroke. February 2016; http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm.
  2. Tarek Bittar, MD. Mucopolysaccharidosis. Medscape Reference. February 2016; http://emedicine.medscape.com/article/1258678-overview.
  3. Mucopolysaccharidoses. NORD. 2011; http://rarediseases.org/rare-diseases/mucopolysaccharidoses/.
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Basic Information

  • 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) (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

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • MPS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.