Gaucher's disease is the most common of the storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase, leading to an accumulation of its substrate, the fatty substance glucocerebroside in the body. Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. ...

Gaucher's disease is the most common of the storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase, leading to an accumulation of its substrate, the fatty substance glucocerebroside in the body. 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 nerve complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets(cloting parts) and yellow fatty deposits on the sclera/eyes. Persons affected most seriously may also be more susceptible to infection. The disease shows autosomal recessive inheritance/genetics and therefore affects both males and females.