Comparing the alpha-galactosidase A biochemical properties from healthy individuals and Fabry disease patients

Due to the importance and the difficulty still present in determining the biochemical diagnosis of Fabry disease (FD), the aim of this study was to establish and compare the biochemical and kinetic properties of alpha-galactosidase A (GLA) in dried blood spots (DBS), plasma and leukocyte samples of FD patients and healthy subjects to evaluate the possible use of these parameters as an auxiliary tool in the diagnosis of this disease. GLA activity in DBS, plasma and leukocyte samples from Fabry disease patients and healthy subjects was compared and characterized in terms of optimal pH, Km and Vmax and heat stability. A difference was observed between the Km and Vmax of FD patients and healthy controls using DBS, plasma and leukocyte samples. In leukocytes, pre-incubation at 50°C for 60min was effective to differentiate FD patients from healthy controls. These results can be used as an auxiliary method to the FD diagnosis, especially in cases of patients whose GLA activity is within normal range. •Comparison of DBS, plasma and leukocyte GLA activity of FD patients and healthy individuals•Optimal pH, Km, Vmax and heat stability were determined.•Km and Vmax from DBS, plasma and leukocyte GLA are different between FD patients and healthy controls.•In leukocytes, temperature was effective to differentiate FD patients from healthy controls.•Results can be used as an auxiliary method to the FD diagnosis.