Gaucher disease, type 1: The most common and best known form of Gaucher disease. It affects the spleen, liver, and bone marrow and spares the brain. The symptoms include enlargement of the spleen (usually the first sign), anemia, low blood platelets, increased skin pigmentation, 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. This type of Gaucher disease is the most common genetic disease among Jews in North America.
Type 1 Gaucher disease is an inborn error of metabolism which results in disease due to a defect in an enzyme called glucocerebrosidase needed to break down the chemical glucocerebroside. The enzyme defect leads to the progressive accumulation of glucocerebroside in the spleen, liver, and lymph nodes.
The usual first 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 is prominent and 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. See the entries also to: |
