Gaucher disease, type 1

Acid beta-glucosidase deficiency; GBA deficiency; Non-Neuronopathic Gaucher Disease

Gaucher's disease (pronounced goʃeɪ) is the most common of the lipid storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase, leading to an accumulation of its substrate, the fatty substance glucocerebroside. Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may cause pain, severe neurologic complications, swelling of lym ...