Fabry disease is an X-linked hereditary lysosomal storage disorder caused by mutations in the GLA gene. Neonatal screening for Fabry disease in males is feasible by measurement of α-galactosidase A activity in DBS using either the mass spectrometric or fluorigenic substrate. The aim of the study: to assess the possibility of introducing the compared methods into the practice of neonatal screening. In the both assays performed a statistically significant difference of the enzyme activity between affected individuals and controls is reported. The slight modification of the fluorimetric method by centrifugation of a 96-well microplate before measurement could improve signal to noise ratio.
Keywords: Fabry disease; neonatal screening.