Development of Alternative Methods for Diagnosing Fabry Disease and Producing α-Galactosidase A in Escherichia coli

Fabry disease (FD) is a rare genetic disorder that leads to the accumulation of lipid in cells. This study aimed to develop a more sensitive method to diagnose FD and produce the protein drug for FD management in a cost-effective manner. In this thesis, the method of detecting the Fabry lipid in human cells using antibody and functional studies of recombinant protein drug against FD that was produced by bacteria were described. The development of new alternatives in this study proposes for more accurate throughputs in mass screening and affordable therapies of FD in clinical settings.