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Genetic and Rare Diseases Information Center (GARD)

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Mucopolysaccharidosis type IIIB


Other Names for this Disease

  • MPS 3B
  • MPS IIIB
  • Mucopoly-saccharidosis type 3B
  • N-acetyl-alpha-d-glucosaminidase deficiency
  • Sanfilippo syndrome B
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 IIIB (MPS IIIB) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides).[1][2] Specifically, people with this condition are unable to break down a GAG called heparan sulfate.[2] Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time.[1] MPS IIIB is caused by alterations (mutations) in the NAGLU gene. This gene provides the instructions for producing an enzyme called N-alpha-acetylglucosaminidase, which is needed to completely break down heparan sulfate. MPS IIIB is inherited in an autosomal recessive manner.[2] There is no specific treatment for this condition.[2] Most people with MPS IIIB live into their teenage years, and some live longer.[1]
Last updated: 4/14/2010

References

  1. 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.
  2. 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.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The 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 IIIB. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • MPS 3B
  • MPS IIIB
  • Mucopoly-saccharidosis type 3B
  • N-acetyl-alpha-d-glucosaminidase deficiency
  • Sanfilippo syndrome B
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.