About Lysosomal Storage Disorder
- Within cells, lysosomes are the main digestive units. Their job is to deconstruct complicated components into simpler ones.
- They break down complex substances like proteins (substrates) into simpler ones.
- As this mechanism is disrupted by an enzyme deficiency, toxic substrates begin to build up in the cells. This is why these illnesses are referred to as “storage diseases.”
- As a result of enzyme defects, Lysosomal storage diseases are inherited metabolic diseases characterised by an excessive build-up of various toxic materials in the body’s cells.
- The majority of lysosomal storage disorders are autosomal recessive in nature.
- There are nearly 50 of these disorders in total, and they can affect the skeleton, brain, skin, heart, and central nervous system, among other body parts.
- Many lysosomal storage diseases currently have no accepted treatments.