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[ Glycoprotein
Storage Diseases | Inheritance | Storage
in Lysosomal Diseases ]
Storage in Lysosomal Diseases
[A comic created for ISMRD by noted cartoonist and illustrator,
Denis Rodier]
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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.
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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.
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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.
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