Mucopolysaccharidosis type IIID
Other Names for this Disease
- MPS 3D
- MPS IIID
- Mucopoly-saccharidosis type 3D
- N-acetylglucosamine-6-sulfate sulfatase deficiency
- Sanfilippo syndrome D
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Mucopolysaccharidosis type IIID (MPS IIID) is an genetic disorder that makes the body unable to break down large sugar molecules called 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 IIID is caused by the missing or deficient enzyme N-acetylglucosamine 6-sulfatase. MPS IIID is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIID live into their teenage years, and some live longer.
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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