Anderson Fabrys Disease Flashcards
1
Q
define
A
X-linked lysosomal storage disease with deficiency of a-galactosidase A (glycosphingolipid metabolism)
2
Q
what parts of the body does this disease affect?
A
kidneys
lungs
liver
erythrocytes
3
Q
presentation
A
renal failure
angiokeratomas
cardiomyopathy, valvular disease
stroke, acroparaesthesia
4
Q
diagnosis
A
plasma/ leukocyte a-GAL activity
renal and skin biopsies
5
Q
management
A
enzyme replacement- fabryzyme
manage complications
