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Diseases

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
  • GBA DEFICIENCY
  • GD 1
  • Glucocerebrosidase deficiency
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Overview



What is Gaucher disease type 1?


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


What is Gaucher disease type 1?

Gaucher disease type 1, also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected, is the most common form of Gaucher disease. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood.  The condition effects various body parts, primarily the liver, spleen, lungs, bone, and blood cells. Gaucher disease is caused by mutations in the GBA gene and is inherited in an autosomal recessive pattern. [1]
Last updated: 2/9/2011

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

References
  1. Gaucher disease. Genetics Home Reference. January 2008; http://ghr.nlm.nih.gov/condition/gaucher-disease. Accessed 5/3/2011.
  2. Sidransky, E. Gaucher Disease. E-medicine. July 22, 2010; http://emedicine.medscape.com/article/944157-overview. Accessed 2/8/2011.
  3. Haute Autorité de Santé. Gaucher disease: National Diagnosis and Treatment Protocol. OrphaNet. January 2007; http://www.orpha.net/data/patho/Pro/en/GaucherPNDS-FRenPro644.pdf. Accessed 2/3/2011.