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Hunter Syndrome: An Orphan Disease
Created: 2008.02.28
Hunter syndrome is a hereditary disorder that prevents the body's ability to produce the enzyme iduronate-2, which is essential in the continuous process of replacing and breaking down glycos-samino-glycans (GAG). Therefore, GAG remains stored in cells in the body causing serious, ongoing damage. The symptoms of Hunter Syndrome are usually not visible at birth, but often become noticeable around the first year of life. Usually the symptoms may include hernias, frequent ear infections, runny noses, and abnormal facial appearance.
As the disease advances, a variety of life-threatening symptoms appear such as, enlarged liver and spleen, heart failure, obstructive airway disease, sleep apnea, joint stiffness, and Central Nervous System (CNS) involvement in some cases. If CNS involvement exists, the life expectancy for patients with Hunter Syndrome average 10-15 years of age. However, in the milder form of the disease, patients can survive into the fifth or sixth decade of life.
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