
Example bone marrow cell with Gaucher disease |
Gaucher's Disease
Gaucher's Disease is a A rare familial disorder of fat metabolism due to a deficiency
of the enzyme acid beta-glucocerebrosidase, which is necessary to break down a particular
lipid (a fatty substance in the blood), glucosyl ceramide.
deficiency and characterized by enlargement of the liver and spleen,
lymphadenopathy, and bone destruction. |