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
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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- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
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- The National Institute of Neurological Disorders and Stroke (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.
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- 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 IIID. Click on the link to view a sample search on this topic.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.