Hunter syndrome
Definition
Hunter syndrome is a defect in the ability to metabolize a type of molecule known as a mucopolysaccharide. Only males are affected. Short stature, changes in the normal curvature of the spine (kyphosis), a distinctive facial appearance characterized by coarse features, an oversized head, thickened lips, and a broad, flat nose characterize the syndrome.
Description
Hunter syndrome is a one of a group of diseases called mucopolysaccharidoses. It is caused by the deficiency of an enzyme that is required to metabolize or break down mucopolysaccharides (also called glycosaminoglycans). It is also called mucopolysaccharidosis Type II (MPS II) because there are several related but similar diseases. The Hunter syndrome involves a defect in the extracellular matrix of connective tissue....
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