E77.0: Defects in post-translational modification of lysosomal enzymes

In the body substances that are no longer required are constantly being broken down. If this breaking down process is disrupted, the superfluous substances can accumulate in various tissues. This can change or damage the tissue.

There are various disorders that involve an inability to break down certain substances properly. These disorders are usually hereditary. Other members of the family may then also be affected. The symptoms can vary widely, depending on the disorder. With certain disorders, substances are deposited in the muscles, bones and internal organs, for example. A muscular weakness may then be noticed as early as during the first weeks after birth. The bones and joints may become increasingly deformed and painful. The joints may also stiffen up. The physical and mental development of children who are affected may be delayed. They are also typically smaller than other children of the same age.

With certain disorders, a large head and coarse facial features are typical. The heart may be damaged. 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.

Depending on the disorder, other symptoms are possible. The symptoms can vary in their severity. With some disorders you may be severely ill.