Serum globotriaosylceramide assay as a screening test for fabry disease in patients with ESRD on maintenance dialysis in Korea.

Background/aims: Fabry disease is an X-linked recessive and progressive disease caused by α-galactosidase A (α-GaL A) deficiency. We sought to assess the prevalence of unrecognized Fabry disease in dialysis-dependent patients and the efficacy of serum globotriaosylceramide (GL3) screening.

Methods: A total of 480 patients of 1,230 patients among 17 clinics were enrolled.