MPS II Fund

Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans. The result is permanent, progressive cellular damage that affects the individual’s appearance, physical abilities, organ, and system functioning, and, in most cases, mental development. One type is called MPS II (MPS 2, also known as Hunter syndrome) is caused by lack of the enzyme iduronate sulfatase. MPS II is the only mucopolysaccharidosis disorder in which the mother alone can pass the defective gene to a son (called X-linked recessive). The disease is almost exclusively found in young males, although cases of affected females have been reported. People with MPS II typically experience joint stiffness, progressive loss of skills, retinal degeneration, and progressive hearing loss.