MPS II
MPS 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 glycosaminoglycans (GAGs). When GAGs 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 can vary widely among individuals, but early diagnosis and treatment can help manage the effects of the disease. Current treatments include enzyme replacement therapy and supportive care to improve quality of life.