Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type II, also known as 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 called mucopolysaccharides. When these substances accumulate in the body, they can lead to various health issues, including developmental delays, joint problems, and heart complications.
The condition primarily affects males and symptoms typically appear between ages 2 and 4. Diagnosis is usually confirmed through enzyme assays or 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.