Publication at First Faculty of Medicine |
2020
Abstract
Anderson-Fabry disease (AFD) is a relatively rare X-linked hereditary storage disorder, caused by mutation of the gene for α-galaktosidase A (α-Gal A). Low or even zero level activity of the enzyme α-Gal A caused accumulation of glycosphingolipids in lysosomes.
This lysosomal storage causes cell dysfunction and subsequent organ malfunction. AFD patients suffer from renal, cardiac, vessel and neurological symptoms, last but not least from skin and gastrointestinal involvement.
Enzyme replacement therapy has been shown effective, with earlier diagnosis resulting in better outcomes in patients with AFD.