DefinitionBy Mayo Clinic staff
Hunter syndrome is a rare genetic disorder that occurs when an enzyme your body needs is either missing or doesn't work properly.
Because the body doesn't have enough of the enzyme to break down certain complex molecules, the molecules build up in harmful amounts in certain cells and tissues. The buildup that occurs in Hunter syndrome eventually causes permanent, progressive damage affecting appearance, mental development, organ function and physical abilities.
Hunter syndrome appears in children as young as 18 months. It nearly always occurs in males.
There's no cure for Hunter syndrome. Treatment of Hunter syndrome involves management of symptoms and complications.
- Scarpa, et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet Journal of Rare Diseases. 2011;6:1.
- Martin R, et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008;121:e377.
- Mucopolysaccharidoses fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm. Accessed Oct. 11, 2012.
- Kakkis E, et al. Complications and management of the mucopolysaccharidoses. http://www.uptodate.com/ index. Accessed Sept. 21, 2012.
- Muenzer J, et al. Multidisciplinary management of Hunter syndrome. Pediatrics. 2009;124:e1228.
- Da Silva EMK, et al. Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome). Cochrane Database of Systematic Reviews. 2011; 9:CD008185. http://onlinelibrary.wiley.com/doi/10.1002/14651858.CD008185.pub2/abstract. Accessed Oct. 1, 2012.
- Valayannopoulos V, et al. Therapy for the mucopolysaccharidoses. Rheumatology. 2011;50:v49.