Gaucher's disease

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     Gaucher’s disease is a genetic condition that occurs when a fatty substance called glucocerebroside is not able to break down into glucose and ceramide[1]. People suffering from Gaucher’s disease have a mutation in the GBA gene that is responsible for the synthesis of the enzyme called beta-glucocerebrosidase[2]. Without enough levels of this enzyme, undigested glucocerebrosidase is stored inside the macrophages and usually build up to a toxic level within the cell. As a result, tissues and organs are damaged and become unable to function normally.

    There are determined three types of Gaucher’s disease. Type 1 is the most frequent one and usually does not affect the nervous system. It is also important to note that Gaucher’s disease is a rare disorder because it is inherited in an autosomal recessive manner which means that an individual must inherit two copies of the gene[3].


Symptoms of Gaucher’s disease include:

1. Anemia
2. Tiredness (fatigue)
3. Pain in bones
4. Increased size of liver and spleen
5. Easy bruising
6. Frequent bleeding[4]


  1. Gauchers Association. Gaucher disease: The most common lysosomal storage disorder. 2018 [cited December 5th, 2018]; Available from:
  2. National Library of Medicine. Gaucher disease. 2014 [citied December 5th, 2018]; Available from:
  3. Stoppler MC. Gaucher Disease. 2018 [cited December 5th, 2018]; Available from:
  4. Stoppler MC. Gaucher Disease. 2018 [cited December 5th, 2018]; Available from:
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