Hunter Syndrome is caused by a deficiency of the enzyme iduronate-2-sulfatase, which is crucial for breaking down complex molecules in the body. This deficiency leads to the accumulation of substances called glycosaminoglycans in various tissues and organs, resulting in a wide range of physical and cognitive symptoms.
Children born with Hunter Syndrome often appear healthy at birth, but as the disorder progresses, they may experience a variety of challenges, including coarse facial features, joint stiffness, organ enlargement, heart problems, respiratory issues, hearing loss, and developmental delays. The severity of symptoms can vary widely, making early diagnosis and intervention critical for providing affected individuals with the best possible quality of life.