E76.3: Mucopolysaccharidosis, unspecified

You have mucopolysaccharidosis.

The condition is also abbreviated to MPS.

There are certain sugars in the body. These sugars are part of the construction of various tissues. If the sugars are no longer required, a particular enzyme usually breaks them down. With this disorder, this enzyme no longer works, or only partly works. As a result, the sugars cannot be properly broken down. Consequently, they are deposited in various body tissues and they can harm them.

There are different forms of the disorder. The symptoms can vary very widely, depending on the form of the disorder. With some forms of the disorder, your hearing or vision are impaired. The body size may be smaller than usual. The bones and joints may be deformed. Affected joints may also be stiff. The disorder can damage the heart. Moreover, the liver and spleen might be enlarged. The liver is an important organ on the top right of the abdomen. For example, it helps with blood clotting and detoxifying the body. Nutrients from food are processed in the liver. The spleen is on the top left side of the abdomen. Old blood cells are broken down in the spleen. Furthermore, defense cells are stored. If the defense cells are needed, they are then released from the spleen into the blood.

With some forms of the disorder, the physical or mental development of affected children is delayed. With other forms, the mental faculties can be normal. Depending on the form of the disorder, the first symptoms may appear in early childhood or only later on. The disorder can cause other symptoms.

The disease is hereditary. Other family members may also be affected.