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Genetic and Rare Diseases Information Center (GARD)

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Mucopolysaccharidosis type IIIA


Other Names for this Disease
  • Heparan sulfamidase deficiency
  • Heparan sulfate sulfatase deficiency
  • MPS 3A
  • MPS IIIA
  • Mucopoly-saccharidosis type 3A
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 type IIIA (MPS IIIA) is a progressive disorder that affects the central nervous system.[1] In people with MPS IIIA, the body cannot break down a large sugar molecule called heparin sulfate.[2][3] Signs and symptoms usually begin in early childhood and include severe neurological symptoms such as progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time.[2][1] MPS IIIA is caused by mutations in the SGSH gene and is inherited in an autosomal recessive manner.[1] There is no specific treatment for MPS IIIA and affected people usually do not survive past the second decade of life.[4]
Last updated: 5/5/2014

References

  1. Mucopolysaccharidosis type III. Genetics Home Reference. August, 2010; http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii. Accessed 5/5/2014.
  2. Mucopolysaccharidoses Fact Sheet. National Institute of Neurological Disorders and Stroke Website. February 16, 2010; http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm. Accessed 4/14/2010.
  3. Chambers D. Sanfilippo syndrome. Medline Plus Web site. May 11, 2009; http://www.nlm.nih.gov/medlineplus/ency/article/001210.htm. Accessed 4/14/2010.
  4. Roseline Froissart and Irène Maire. Mucopolysaccharidosis type 3. Orphanet. February, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=581. Accessed 5/5/2014.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 IIIA. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Heparan sulfamidase deficiency
  • Heparan sulfate sulfatase deficiency
  • MPS 3A
  • MPS IIIA
  • Mucopoly-saccharidosis type 3A
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.