Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers.

Introduction: Recently, a method to analyse dried whole blood spots to diagnose Fabry disease (deficiency of the lysosomal enzyme alpha-Gal A) was described. However given its X-linked inheritance female Fabry patients can exhibit normal alpha-Gal A activities. This could lead to underestimation in screening females for Fabry disease using this method.