Deficiency, glucocerebrosidase definition - medical term
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 Jews.
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 parents carry the GD gene and transmit it for their child with the disease.
The risk for the parents having a child with the disease is 1 in 4 with each pregnancy.
Type 1 Gaucher disease is known alternatively as noncerebral juvenile Gaucher
disease or glucocerebrosidase deficiency. For an article about this condition, see
Gaucher Disease.
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