Glossary of Medical Terms

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DISEASE, GAUCHER'S TYPE 1

A progressive genetic malady caused by a defect in an enzyme. The enzyme, called glucocerebrosidase, is needed to interrupt down the chemical glucocerebroside. The enzyme defect in persons with Gaucher's malady (GD) leads to the accumulation of glucocerebroside in the spleen, liver, and lymph nodes. The most general early sign is enlargement of the spleen (located in the upper left abdomen). Another signs include low red blood cell counts (anaemia), a decrease in blood clotting cells (platelets), heighten pigmentation of the skin, and a yellow fatty spot on the white of the eye (a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine. The GD gene is on chromosome 1. The malady is a recessive trait. Both parents carry a GD gene and transmit it for their baby with the malady. The parents' risk of a baby with the malady is 1 in 4 with every pregnancy. This type of Gaucher's malady (noncerebral juvenile Gaucher's disease) is most general in Ashkenazi Jews (of European origin) and is the most general genetic malady among Jews in the United States.
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