E76.0: Mucopolysaccharidosis, type I

You have type 1 mucopolysaccharidosis.

The condition is also abbreviated to MPS 1.

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 3 different forms of the condition, each of which evolves with different severity. The better the enzyme is still able to work, the milder the condition will be.

With the severe form of the condition, the first indications appear just a few months after birth. The physical and mental development of children who are affected is usually delayed. They are also typically smaller than other children of the same age. The bones and joints may be deformed. Affected joints may also be stiff. A large head and coarse facial features are also typical. 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 the severe form of the condition, sugars can be deposited in the cornea. The cornea is located at the front of the eye. It is transparent and curved. The curvature focuses light in the eye. This is vital to be able to see clearly. The deposited sugars can make the cornea cloudy. If your cornea is cloudy, you may not be able to see so well with the eye affected.

The mild form of the condition usually first becomes noticeable as an adult. You usually then have a normal size head and normal mental faculties. However, bone changes and stiff joints can also occur. The cornea may also be cloudy. The cardiac valves may also undergo changes. There are 4 valves in the heart. These valves ensure that the blood flows in the right direction. So they have to close tightly. They also have to open up fully so that the blood can be properly pumped out of the heart.

With the moderate form of the condition, symptoms of the mild and of the severe forms of the condition may be present. The mental faculties are normal or mildly limited. Physical impairments can be of varying severity. With all 3 forms of the condition, various other symptoms are possible.

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. The disorder can occur if both parents carry the changed genetic information. The parents can pass the changed genetic information on to their children without falling ill themselves.