Project Alive - Hunter Syndrome

Hunter Syndrome is a rare genetic disease that is progressively debilitating, life-limiting and without a cure. It occurs almost exclusively in males and currently affects approximately 500 boys in the U.S. and less than 2,000 worldwide. Individuals with Hunter Syndrome have a defect in the gene that normally causes the body to make the enzyme iduronate-2-sulfatase (I2S) – the “garbage man” – which is responsible for the breakdown of cellular waste called glycosaminoglycans or GAGs – the cell’s “garbage.” Without that necessary enzyme, the accumulation of these GAGs leads to progressive damage throughout the entire body.