Gaucher's disease is a hereditary deficiency of an enzyme called glucocerebrosidase, - an enzyme needed by the body to break down a certain type of fatty substance in our body. Once the enzyme becomes inactive, the fat accumulates mostly in the spleen, liver, and bone marrow which can lead to fatigue, liver malfunction, skeletal disorders, or even death.
Its gene name is GBA and GeneID:2629
Glucocerebrosidase normal function in the body is to be able to break down a type of fat called glucocerebroside.
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In fact, the GBA enzyme (glucocerebrosidase) can be given to patients to treat this disease.
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