E75: Disorders of sphingolipid metabolism and other lipid storage disorders

E75.3: Sphingolipidosis, unspecified

In the body, certain proteins ensure that processes run better or more quickly. These proteins are also known as enzymes. Some enzymes for instance are involved in forming fats.

In your case, an enzyme is not working properly. The disease is hereditary. Other family members may also be affected.

With this disease, you may already have had symptoms as a child. The severity of the symptoms depends on which enzyme is not working properly. Various areas of the body can be affected. If you have the disease, you may be severely ill.

If fats are deposited in various organs, these may become enlarged or no longer work properly. The mental faculties may be impaired and you may have problems moving properly. You may also have cramps or a fever. Your bones may not grow properly.