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). Due to a faulty GBA gene, 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.

Gaucher disease is one of the most common lysosomal storage disorders affecting ~1:40,000 to 60,000. Like other lysosomal storage disorders, there is a a wide spectrum of signs and symptoms including 3 different types of the disease described as type 1, the most common type of the disorder that does not affect the central nervous system; type 2 an acute, severe type of Gaucher disease and type 3 disease that is a characterized as a chronic form that does affect the central nervous system.

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

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