Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked lysosomal storage disease caused by a deficiency of the enzyme iduronate-2-sulfatase, which leads to the pathological accumulation of glycosaminoglycans in organs and tissues throughout the body, causing progressive multisystemic dysfunction. MPS II occurs predominantly in males and has an estimated prevalence of 1 in 100 000 male live births. The clinical presentation of MPS II is highly variable, and the disease is associated with a broad spectrum of severity.
26
NOV
NOV
0