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Alternative NamesMucopolysaccharidosis type II, Iduronate sulfatase deficiency
Definition Return to top
Hunter syndrome is an inherited disease in which long chains of sugar molecules (mucopolysaccharides) are not broken down correctly and build up in the body.
Causes Return to top
Hunter syndrome is an inherited condition. Boys are most often affected.
The condition is caused by a lack of the enzyme iduronate sulfatase. Without this enzyme, mucopolysaccharides build up in various body tissues, causing damage.
The early-onset, severe form of the disease begins shortly after age 2. A late-onset, mild form causes less severe symptoms to appear later in life.
Symptoms Return to top
Juvenile form (early-onset, severe form):
Late (mild) form:
Exams and Tests Return to top
Signs of the disorder include:
Tests may include:
Treatment Return to top
The U.S. Food and Drug Administration has approved the first treatment for Hunter syndrome. The medicine, called idursulfase (Elaprase), is given through a vein (intravenously). Talk to your doctor for more information.
Bone marrow transplant has been tried for the early-onset form, but the results can vary.
Each health problem should be treated separately.
Outlook (Prognosis) Return to top
People with the early-onset (severe) form usually live for 10 - 20 years. People with the late-onset (mild) form usually live 20 - 60 years.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
Call your health care provider if:
Prevention Return to top
Genetic counseling is recommended for couples who want to have children and who have a family history of Hunter syndrome. Prenatal testing is available. Carrier testing for female relatives of affected males is available at a few centers.
References Return to top
Muenzer J, Wraith JE, Beck M, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med. 2006 Aug;8(8):465-73.
Wraith JE. Mucopolysaccharidoses and oligosaccharidoses. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. New York, NY: Springer;2006:chap 39.Update Date: 4/15/2009 Updated by: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.