Gaucher disease

Overview

What is Gaucher's disease?

Gaucher disease was first described by Dr. Phillippe Gaucher in 1882. Gaucher disease is a lysosomal storage disease involving a deficiency (lacking) of the enzyme glucocerebrosidase (GBA). This enzyme deficiency leads to buildup (storage) of certain lipids (fats) called glucocerebrosides (GL1) in the spleen, liver, bone marrow, and other parts of the body. Symptoms of the disease may include enlargement of the spleen and liver (a big belly or abdomen), anemia, thrombocytopenia (low platelet counts), bone pain, and bone fragility.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/gaucher-disease/overview/3335 • DATE UPDATED: 2016-07-07

References

Gaucher disease. [Internet]. Medline Plus [updated January 12, 2016]. Available from: https://www.nlm.nih.gov/medlineplus/gaucherdisease.html

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