Gaucher
A talk by Priya Kishnani
by Priya Kishnani
What is Gaucher’s disease?
Gaucher's disease is the most common of the lysosomal storage diseases. It is pronounced as GO-SHEY. It results from deficiency of a specific enzyme in the body caused by genetic mutation present in both parents. This deficiency leads to accumulation of an abnormal fatty substance in different organs of the body such as liver, spleen, brain, bone marrow and lungs.