Hunter Syndrome
Hunter Syndrome is a rare genetic disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. This enzyme is essential for breaking down certain complex carbohydrates, leading to their accumulation in the body. Symptoms often include developmental delays, physical abnormalities, and issues with the heart and respiratory system.
The condition is inherited in an X-linked recessive pattern, primarily affecting males. Diagnosis typically involves enzyme activity tests and genetic testing. While there is no cure, treatments such as enzyme replacement therapy can help manage symptoms and improve quality of life for those affected.