Storage in Lysosomal Diseases
[A comic created for ISMRD by noted cartoonist and illustrator, Denis Rodier]
In the Lysosomes, or Recycling Center of the Cell, our Penguins work hard and efficiently to move large bags of undegraded compounds, or substrates (denoted by the "S" on each bag). Each bag is broken down and sent back to the body to be reused.
In some people, our penguins can't do their job efficiently because of a genetic defect that prevents the bags of waste from moving through the Recycling Center. Most commonly, this defect is found in the enzyme whose job it is to bust up certain bags of substrates. The result is a slowdown in the workflow, resulting in substrates not moving through the Lysosome.
Over time work in the Recycling Center comes to a virtual standstill and the bags of substrates begin to build up in the Lysosomes. When this happens the person affected displays a multitude of symptoms that cause pain, neurological damage and a shortened lifespan.