Overview

Lysosomal Storage Diseases are inherited metabolic diseases that cause a large build-up of toxic materials in the bodies cells caused by enzyme deficiencies. This disease can effect the skeleton, brain, skin, heart, and central nervous system. There is study about how to cure this disease, but no official treatment for it.

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What to Look For

Symptoms will occur because of an enzyme deficiency that locates the capability of the lysosomes present in each of the body's cells to perform their regular function. Lysosomes are used to digest/break down complex factors into simpler ones within the cells. When this process does not take place, the proteins that the lysosomes are suppose to break down begin to build up in the cells.

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Causes

Caused by an error in metabolism that you are born with caused by the absence or deficiency of an enzyme.

Treatment

Although there are no official treatments for this disease, there are other ways to treat it that might help. Some of the treatments include a bone marrow transplant and enzyme replacement therapy.

Source

https://rarediseases.org/rare-diseases/lysosomal-storage-disorders/