Hunter syndrome

Hunter syndrome or type II mucopolysaccharidosis is an inherited disorder, which mainly affects males. Patients are deficient in enzyme, called iduronate-2-sulfatase (I2S), which plays major role in degrading two substrates: dermatan sulfate (abundant in the skin blood vessels and heart) and heparan sulfate (abundant in the lungs, arteries and cellular surfaces). Enzymatic deficiency causes pathologic storage of those two substrates which leads to dysfunction and damage of certain cells and organs manifesting in variable symptoms.

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