Hunter syndrome
Hunter syndrome, also known as Mucopolysaccharidosis type II, 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 called glycosaminoglycans. When the enzyme is lacking, these substances accumulate in the body, leading to various health issues.
Symptoms of Hunter syndrome can include developmental delays, physical abnormalities, and problems with the heart, lungs, and other organs. The condition primarily affects males and is inherited in an X-linked recessive pattern. Early diagnosis and management can help improve quality of life for those affected.