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3 Cards in this Set

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  • Back

Familial Hypercholesterolemia

Most common form caused by mutation in cytoplasmic tail of LDL receptor.


LDL not efficiently removed from circulation.


Leads to atherosclerosis.



Gaucher's Disease

Caused by defective glucocerebrosidase lysosomal enzyme.


Macrophages most affected as they use it to breakdown RBCs


Spleen and liver most affected.


Can be treated with recombinant enzyme but need glycosidase that expose M6P residues