{alpha}-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease

Introduction. Fabry disease or α-galactosidase A (α-Gal A) deficiency is an X-linked lysosomal storage disorder that often leads to renal insufficiency in males and occasionally in females. The disease is rare, but its prevalence may be underestimated due to its variable clinical picture. Enzyme supplementation therapy with rHu-αGal A is currently available. Limited experience has so far shown that therapy may at best stabilize renal function. Despite these preliminary findings, much effort is being put into screening high-risk groups for undiagnosed α-Gal A deficiency. We studied the prevalen... Mehr ...