Hunter syndrome

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Mucopolysaccharidosis type II, Iduronate sulfatase deficiency

Juvenile form (early-onset, severe form):

• Mental deterioration
• Severe mental retardation
• Aggressive behavior
• Hyperactive

• Mild to no mental deficiency

• 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 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

• 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

Review Date: 08/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.