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Hunter syndrome

Definition

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.

Alternative Names

Mucopolysaccharidosis type II, Iduronate sulfatase deficiency

Causes, incidence, and risk factors

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

Juvenile form (early-onset, severe form):

Late (mild) form:

  • Mild to no mental deficiency

Both forms:

Signs and tests

Signs of the disorder include:

Tests may include:

  • Enzyme study
  • Genetic testing for change (mutation) in the iduronate sulfatase gene
  • Urine test for heparan sulfate and dermatan sulfate

Treatment

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.

Support Groups

Expectations (prognosis)

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.

Complications

  • Airway obstruction
  • Carpal tunnel syndrome
  • Hearing loss that gets worse over time
  • Loss of ability to complete daily living activities
  • Joint stiffness that leads to contractures
  • Mental function that gets worse over time

Calling your health care provider

Call your health care provider if:

  • You or your child has a group of these symptoms
  • You know you are a genetic carrier and are considering having children

Prevention

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

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.

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    Review Date: 4/15/2009

    Review 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.

    The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- 2010 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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