Fabry disease is a rare X-linked inherited disorder in which there is deficiency of α-galactosidase A (an enzyme in the glycosphingolipid pathway) that leads to progressive deposit of globotriaosylceramide (Gb3) in lysosomes. This disorder may present as CKD in young adulthood. Other associated clinical features include premature coronary artery disease, severe neuropathic pain, telangiectasias, and angiokeratomas.
If you want to change selection, open document below and click on "Move attachment"
- (no access) - MKSAP_17.pdf, p3388
|status||not read|| ||reprioritisations|
|last reprioritisation on|| ||suggested re-reading day|
|started reading on|| ||finished reading on|