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 is inherited in an X-linked recessive pattern. Symptoms typically appear in early childhood and can vary widely among individuals. Early diagnosis and management are crucial for improving quality of life and addressing specific health challenges associated with the disorder.