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Definition
By Mayo Clinic staffHunter syndrome is a rare genetic disorder that occurs when an enzyme your body needs is either missing or malfunctioning.
Because the body doesn't have adequate supplies 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 age 2. It nearly always occurs in males.
There's no cure for Hunter syndrome. Treatment of Hunter syndrome involves management of symptoms and complications.
- Martin R, et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008;121:e377.
- MPS II (Hunter syndrome). National MPS Society. http://www.mpssociety.org/index.php?option=com_content&view=article&id=129&Itemid=18. Accessed May 6, 2010.
- Mucopolysaccharidoses fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm. Accessed May 8, 2010.
- Kakkis E, et al. Clinical features and diagnosis of the mucopolysaccharidoses. http://www.uptodate.com/home/index.html. Accessed May 5, 2010.
- Kakkis E, et al. Complications and management of the mucopolysaccharidoses. http://www.uptodate.com/home/index.html. Accessed May 5, 2010.
- Muenzer J, et al. Multidisciplinary management of Hunter syndrome. Pediatrics. 2009;124:e1228.
- Newborn screening. Centers for Disease Control and Prevention. http://www.cdc.gov/nbslabbulletin/bulletin.html. Accessed May 6, 2010.
- Guffon N, et al. Bone marrow transplantation in children with Hunter syndrome: Outcome after 7 to 17 years. Journal of Pediatrics. 2009;154:733.
- Elaprase (prescribing information). Cambridge, Mass.: Shire Human Genetic Therapies; 2007. http://www.elaprase.com/pdf/ElaprasePI40-0120_REV_0_GT4.pdf. Accessed May 5, 2010.
- Safety and clinical outcomes in Hunter syndrome patients 5 years of age and younger receiving idursulfase therapy. ClinicalTrials.gov. http://clinicaltrials.gov/ct2/show/NCT00607386. Accessed May 6, 2010.
- Burrow TA, et al. Review of the use of idursulfase in the treatment of mucopolysaccharidosis II. Biologics: Targets & Therapy. 2008;2:311.
- Friso A, et al. Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. British Journal of Pharmacology. 2010;159:1082.
- Piotrowska E, et al. Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. European Journal of Human Genetics. 2006;14:846.
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