Diseases

Gluco Cerebrosidase Deficiency

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Glucocerebrosidase deficiency: causes type 1 gaucher disease, a progressive genetic disease due to an enzyme defect. ... The enzyme defect leads to the progressive accumulation of glucocerebroside in the spleen, liver, and lymph nodes.

SYMPTOMS

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).

CAUSES

The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiencyof the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside.