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Genetic and Rare Diseases Information Center (GARD)

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Gaucher disease type 1

Other Names for this Disease
  • Acid beta-glucosidase deficiency
  • Gaucher disease, noncerebral juvenile
  • GD 1
  • Glucocerebrosidase deficiency
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Your Question

My sister passed away several years ago from complications of Gaucher disease.  She was petite in build and darker skinned than any of her siblings who had much lighter complexions and stockier builds.  Would these differences have been due to Gaucher disease?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What are the signs and symptoms of Gaucher disease type 1?

Although symptoms of Gaucher disease type 1 may vary greatly, the major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), chronic fatigue, lung disease, and bone abnormalities such as bone pain, fractures, and arthritis[1]  Short stature and muscle wasting are occasionally found in patients whose bodies expend a huge amount of energy due to massive hepatosplenomegaly.[2] Very rarely the eyes, kidneys, skin pigment or gastrointestinal tract can be affected. [3]
Last updated: 2/10/2011