Mucopolysaccharidosis type II (Hunter syndrome):diagnosis and current treatment
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome - is a rare, X-linked disorder caused by a deficiency of the lyso- somal enzyme iduronate-2-sulfatase, which catalyzes a step in the catabolism of glycosaminoglycans. In patients with MPS II, glycosaminoglycans accumulate within tissues and organs. Common features include excess facial dysmorphism, organomegaly, joint stiffness and contractures, pulmonary dysfunction, myocardial enlargement and valvular dysfunc- tion, and neurologic involvement. In patients with severe MPS II death usually occurs in the second decade of life, while patients with attenuated Hunter syndrome may survive into adulthood. Enzyme replacement therapy improves the mani- festations of MPS II.