Mucopolysaccharidosis type II ( MPS II ) disease—more commonly known as Hunter Syndrome—is a genetically acquired disease, which is characterized by an inadequate production of an enzyme known as iduronate sulfatase (IDS). This production of IDS is essential in breaking down complex sugars (also known as GAGs), which are responsible for the repair and creation of cells, tissues, and tendons to support the normal functions of a human body. The absence of IDS destroys the process of breaking down these complex GAGs.
When GAGs are not properly broken down into simpler forms they lock themselves inside the enzyme. These stored GAGs increase and eventually block other GAGs from coming out, causing cell malfunctions inside the body. Stored GAGs ultimately damage many parts of the body, as the undigested sugars build up within the cells.
Effects of Hunter Syndrome
MPS II usually results in round-neck bone deformities. It also coarsens facial features by thickening the lips, tongue, and nostrils. Other side effects of Hunter Syndrome include dwarfism, deafness, cardiovascular disorders, and the enlargement of the liver and spleen. In the most severe of cases, Hunter Syndrome can also lead to premature death.
While there is currently no cure for MPS II, there are treatments that can help to slow the progression of the disease and lessen the severity of the syndrome. For the families who have a Hunter Syndrome patient at home, it is essential for you seek advice from your doctors on how to properly treat your child. There are also support groups that help spread the awareness and further knowledge of the syndrome.
It is not easy to suffer such condition, for both family and patients, but with the proper guidance and help of people around you, life will be that much easier to manage.