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.
T ype 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:
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