Gaultheria hispidula

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 can affect multiple organs and tissues.

Symptoms

The symptoms of Gaucher's disease can vary widely, from mild to severe. They can appear anytime from childhood to adulthood. Common symptoms include anemia, fatigue, bruising and bleeding, bone pain and fractures, and enlarged liver and spleen.

Types

There are three main types of Gaucher's disease:

• Type 1 (non-neuronopathic form): This is the most common type of Gaucher's disease. It occurs mainly in adults and is characterized by anemia, easy bruising, fatigue, and enlargement of the liver and spleen.

• Type 2 (acute neuronopathic form): This is a rare form of Gaucher's disease that begins in infancy and typically results in severe neurological complications.

• Type 3 (chronic neuronopathic form): This form of Gaucher's disease begins in childhood or adolescence and is characterized by neurological complications that progress more slowly than in Type 2.

Causes

Gaucher's disease is caused by mutations in the GBA gene, which provides instructions for producing the enzyme 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 measure the level of glucocerebrosidase in white blood cells. Genetic testing can also be done to identify mutations in the GBA gene.

Treatment

Treatment for Gaucher's disease includes enzyme replacement therapy (ERT), which involves receiving infusions of the enzyme glucocerebrosidase. Another treatment option is substrate reduction therapy (SRT), which reduces the body's production of the fatty substance that accumulates in cells.

See also

• List of genetic disorders
• Lysosomal storage disease