3. Diagnosis: The Metabolic Defect In Gaucher Disease


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This is the basic metabolic defect in Gaucher Disease. It’s a deficiency of this enzyme in the lysosome, acid beta glucosidase or glucocerebrosidase and when that is deficient glucose ceramide accumulates in the lysosome, and this lipid when it accumulates to high levels can be very toxic and lead to cell and organ injury. There’s a very simple diagnostic test for Gaucher Disease which is measurement of the activity of this enzyme in peripheral blood leukocytes.

 

 

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