Lysosomal Disorders - GAUCHER

Gaucher's disease is a rare, inherited disorder that causes too much of a substance called glucocerebroside to build up in your spleen, liver, lungs, bones and sometimes in your brain. The buildup prevents these organs from working properly.

There are three types:

  • Type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not involve the brain. It can occur at any age.
  • Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.
  • In type 3, there may be liver and spleen enlargement, and signs of brain involvement appear gradually.

 

Treatment

Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective.  There is no good treatment for the brain damage of type 2.

 

 

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