Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
3 Cards in this Set
- Front
- 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 |
|
|
|
|
