E76.1: Mucopolysaccharidosis, type II

You have type 2 mucopolysaccharidosis.

The condition is also abbreviated to MPS 2.

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.

The disorder can take a more or less severe course. The better the enzyme is still able to work, the milder the condition will be. If the condition is severe the first symptoms can appear in childhood. A large head and coarse facial features are typical. Nodular skin changes may also develop. This is also known as orange peel skin, because the skin at the sites concerned resemble orange peel. Respiratory infections and diarrhea can also occur more often.

Your hearing can be affected. A smaller than usual body size is typical. 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.

When it is severe, the physical and mental development of affected children is delayed. If the condition is mild, however, the development of the mental faculties is typical of others in the relevant age group. With the mild form, physical symptoms can be of varying severity and appear for the first time at different points in time.

The disease is hereditary. It occurs when certain segments of genetic information are changed. The genetic information holds a complete blueprint of the body’s structure in the form of chromosomes. With this disorder, a section on the X chromosome is changed. The X chromosome and the Y chromosome determine a person’s biological gender. Men normally have one X chromosome and one Y chromosome. Women normally have 2 X chromosomes. Males can get the condition if they inherit a changed X chromosome from their mother. Females only get the condition if both X chromosomes are changed. If females carry one changed and one healthy X chromosome, they do not usually get the condition. However, they can pass the condition on to their children.