Mucopolysaccharidosis type IIIA
Other Names for this Disease
- Mucopoly-saccharidosis type 3A
- Sanfilippo syndrome A
- Heparan sulfate sulfatase deficiency
- MPS IIIA
- MPS 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.
central nervous system. In people with MPS IIIA, the body cannot break down a large sugar molecule called heparin sulfate. 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. MPS IIIA is caused by mutations in the SGSH gene and is inherited in an autosomal recessive manner. There is currently no specific treatment for MPS IIIA; affected people usually do not survive past the second decade of life.Mucopolysaccharidosis type IIIA (MPS IIIA) is a severe, progressive disorder that affects the
Last updated: 7/21/2015
- Mucopolysaccharidosis type III. Genetics Home Reference. August, 2010; http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii. Accessed 5/5/2014.
- Mucopolysaccharidoses Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). February 23, 2016; http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm.
- Haldeman-Englert C. Sanfilippo syndrome. MedlinePlus. May 7, 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001210.htm. Accessed 7/2/2015.
- 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.
- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
- Genetics Home Reference (GHR) contains information on Mucopolysaccharidosis type IIIA. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.