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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
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glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. 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. 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. There is no specific treatment for this condition. Most people with MPS IIIB live into their teenage years, and some live longer.Mucopolysaccharidosis type IIIB (MPS IIIB) is an genetic disorder that makes the body unable to break down large sugar molecules called
Last updated: 4/14/2010
- 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.
- 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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- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Mucopolysaccharidosis type IIIB. Click on the link to go to OMIM and review these resources.
- 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.