Abstract Fabry disease is a metabolic alteration linked to an enzymatic deficiency of Alpha-Galactosidase A, this disorder compromises the sphingolipid metabolism, leading to an accumulation of Mens Skirts lysosomal globotriaosylceramide and is inherited in an X-linked recessive way.The diagnostic of this disease, in general, requires the confirmation of below-normal levels of Alpha-Galactosidase A obtained from dried blood spot (DBS) samples, followed by an assessment of the enzyme in leukocytes.We aimed to report the Alpha-Galactosidase A values obtained in Colombian males with end-stage renal disease (ESRD) screened using dried blood spot samples during ten years.
This screening was performed with samples sent to the analysis center from 6156 patients between 2006- 2016.All patients with low levels in enzyme activity (compared to the control population) were sent to confirmation through enzyme analysis in isolated leukocytes.26 males (0.
42%) with low levels of Alpha-Galactosidase A were identified (Range 0.0 - 1.14 nmol/ml/hour, cut-off: 1.
15), 22 patients were subsequently measured in isolated leukocytes having a confirmation of Fabry disease Body Moisturizers in 5 patients (0.08% of total male population) (Range: 0.3 -4.
7 nmol/mg prot/h).These results are similar to those reported in studies with comparable characteristics being this the first reporting frequency of Fabry disease among Colombian males with end-stage renal disease.