Diseases

Glucosylceramide Beta Glucosidase Deficiency

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Gaucher's disease or gaucher disease (gd) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. ... The disease is caused by a recessive mutation in the gba gene located on chromosome 1 and affects both males and females.

SYMPTOMS

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), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.

CAUSES

Gaucher disease, the most common lysosomal storage disease, is caused by a deficiency of glucocerebrosidase resulting in the impairment of glucosylceramide degradation.