Gaucher's disease

 

A collection of metabolic inherited conditions in which the enzyme glucocerebrosidase is reduced in production. This leads to accumulation of glucocerebroside.

Gaucherís disease is an in born error of metabolism in which there is an absence or mutation of  gene which expresses an enzyme called glucocerebrosidase. In sufferers the enzyme is not produced at all and the body needs this enzyme to break down glucocerebroside.  Glucocerebroside then accumulates in the bone marrow, spleen and liver mainly, leading to clinical features like anemia, jaundice, fatigue, bone damage, pain and death.  It is treated by replacing the deficient enzyme in the body.  The disease is common in Jews of East European origin.

 

 

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