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Hunter syndrome

Alternative Names: Mucopolysaccharidosis type II, Iduronate sulfatase deficiency Symptoms: Juvenile form (early-onset, severe form): mental deterioration severe mental retardation aggressive behavior hyperactive 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 Text Continues Below 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 iduronosulfate sulfatase (may be studied in serum, WBCs, fibroblasts) genetic testing may show mutation in the iduronate sulfatase gene

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