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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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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

  1. Gaucher disease. Genetics Home Reference. January 2008; Accessed 5/3/2011.
  2. Sidransky, E. Gaucher Disease. E-medicine. July 22, 2010; Accessed 2/8/2011.
  3. Haute Autorité de Santé. Gaucher disease: National Diagnosis and Treatment Protocol. OrphaNet. January 2007; Accessed 2/3/2011.