Gaucher's

Gaucher's disease is a genetic disorder in which a certain type of fat (lipid) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase), which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (mononuclear leukocytes). Gaucher's disease is the most common of the lysosomal storage diseases. It is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids.

Signs and symptoms

The symptoms of Gaucher's disease can vary widely, from mild to severe. They can include fatigue, bruising, anemia, low blood platelets, and enlargement of the liver and spleen. In severe cases, the disease can cause bone pain and fractures, cognitive impairment, and organ damage.

Causes

Gaucher's disease is caused by a mutation in the GBA gene, which provides instructions for producing an enzyme called glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene reduce or eliminate the activity of glucocerebrosidase, allowing glucocerebroside to accumulate in cells.

Diagnosis

Diagnosis of Gaucher's disease involves a blood test to check for the enzyme glucocerebrosidase. Genetic testing can also be done to identify mutations in the GBA gene.

Treatment

Treatment for Gaucher's disease includes enzyme replacement therapy, which involves receiving infusions of the enzyme glucocerebrosidase. Other treatments can include medications to manage symptoms and complications, and in severe cases, surgery or bone marrow transplantation may be necessary.

See also

• List of genetic disorders
• Lysosomal storage disease
• Sphingolipidosis

Gaucher's Resources
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