Trusted Information on Gaucher disease

Gaucher disease (GD) is a rare genetic condition that affects the bones, liver, spleen, and other parts of the body. GD is caused when an individual inherits a change or variant in the GBA gene from both of their parents. This gene change results in the body making too little of a specific enzyme called β-glucosidase or glucocerebrosidase that is needed to break down certain fats called glucocerebroside (GL1). These fatty substances build up in the cells of the bone, spleen, liver, and other parts of the body.

Gaucher disease related health issues can start at any age but based on the timing when symptoms begin and the seriousness of the medical issues it is divided into 3 types: type 1, type 2 and type 3. GD type 1 symptoms can begin in childhood or adulthood and respond well to treatment when begun early. Usually, type 1 Gaucher disease is non-neuronopathic, meaning it does not affect the brain. GD types 2 and 3 are seen around the world, but are the most common types of Gaucher disease seen outside the United States, like in Taiwan, Japan, India and Egypt. GD type 2 is the most severe and acute life-threatening form of the disease with health issues usually beginning before birth. GD type 3 is an intermediate, chronic form of the disease which causes issues not only with the spleen, liver and bones but affects the brain. Type 3 GD usually begins in childhood and is slowly progressive.

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