Hunter Syndrome

Hunter syndrome, also known as mucopolysaccharidosis type II, is a rare genetic disorder caused by the absence of an enzyme necessary to break down certain complex sugars called glycosaminoglycans. Without this enzyme, these substances accumulate in the body's tissues and organs, leading to progressive physical and developmental issues. Symptoms can include distinctive facial features, enlarged liver and spleen, joint stiffness, heart problems, and respiratory difficulties. Hunter syndrome primarily affects males and varies in severity. While there is no cure, treatments like enzyme replacement therapy can help manage symptoms and improve quality of life.