Glucocerebrosidase deficiency: Causes type 1 Gaucher disease, a progressive genetic disease due to an enzyme defect. The enzyme, glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect leads to the progressive accumulation of glucocerebroside in the spleen, liver, and lymph nodes. Gaucher disease is the most common genetic disease in Ashkenazi Jews (those of European origin) and in American and Canadian of Jewish descent.
The most common early sign of the disease is enlargement of the spleen (located in the upper left abdomen). Other common signs include anemia, a decrease in blood platelets (clotting cells), increased pigmentation of the skin, and a yellow fatty spot on the white of the eye (called a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine.
The gene for Gaucher disease (GD) is on chromosome 1. The disease is a recessive trait. Both heterozygous parents carry the GD gene and transmit it to their child with the disease. The risk for the carrier parents of having a child with the disease is 1 in 4 with each pregnancy.