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Tests and diagnosis
By Mayo Clinic staffBabies born with Hunter syndrome almost always appear healthy at birth. Changes in facial features are often the first noticeable sign that something's not right.
To confirm the diagnosis of Hunter syndrome, your doctor will perform blood, urine or tissue sample tests that look for excess glycosaminoglycans in your child's urine or a deficiency of enzymes in your child's body fluids or cells. In addition, a genetic analysis can confirm the diagnosis.
Sometimes another health issue can lead to a diagnosis of Hunter syndrome. For example, if your child has recurrent pneumonia, a chest X-ray may show irregularly shaped vertebrae and ribs, a common sign of this syndrome. This finding could lead to further testing and an earlier diagnosis of the disease. However, because the disorder progresses slowly and its signs and symptoms overlap with a number of other disorders, definitive diagnosis may take some time.
Prenatal testing
Prenatal testing of the fluid that surrounds the baby (amniocentesis) or of a tissue sample from the placenta (chorionic villus sampling) can verify if your unborn child carries a copy of the defective gene or is affected with the disorder.
- 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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