Hunter syndrome - Symptom
Alternative Names
Mucopolysaccharidosis type II, Iduronate sulfatase deficiency
Symptoms:
Juvenile form (early-onset, severe form):
- Mental deterioration
- Severe mental retardation
- Aggressive behavior
- Hyperactivity
Late (mild) form:
- Mild to no mental deficiency
Both forms:
- Coarse facial features
- Large head (macrocephaly)
- Stiffening of joints
- Increased hair (hypertrichosis)
- Deafness (progressive)
- Enlargement of internal organs such as liver and spleen
- Abnormal retina (back of the eye)
- Carpal tunnel syndrome
Signs and tests:
Signs of the disorder that the doctor might look for include:
- Hepatomegaly (enlargement of liver)
- Splenomegaly (enlargement of spleen)
- Inguinal hernia
- Spasticity
- Heart murmur and leaky heart valves
- Joint contractures
- Excretion of heparan sulfate and dermatan sulfate in urine
- Decreased iduronate sulfatase enzyme activity in serum or cells
Tests that may indicate this disorder is present include:
- Urine for heparan sulfate and dermatan sulfate
- Enzyme study, decreased iduronate sulfatase (may be studied in serum, white blood cells, skin cells)
- Genetic testing may show mutation in the iduronate sulfatase gene
- Reviewed last on: 9/28/2007
- David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. Previously reviewed by Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network (8/11/2006).
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.
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