The lysosomes are primary digestive units within cells. Their function is to break down complex components into simpler ones. They degrade complex components such as proteins (substrates) into simpler components
When this process does not take place due to enzyme deficiency, the toxic substrates begin to accumulate in the cells. That is why these diseases are called “storage diseases”.
Therefore, Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.
Most lysosomal storage disorders are inherited in an autosomal recessive manner.
There are nearly 50 of these disorders altogether, and they may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system
There is currently no approved treatment for many lysosomal storage diseases.
