Infrared spectroscopy as a new approach for Fabry disease screening

Background Fabry disease (FD) is a rare X-linked lysosomal storage disorder marked by alpha-galactosidase-A (α-Gal A) deficiency, caused by pathogenic mutations in the GLA gene resulting in the accumulation of glycosphingolipids inside lysosomes. The current screening test consists of measuring α-Gal A activity. However, it is limited only to men. Infrared spectroscopy is a technique that provides information about biofluids' molecular composition and has been successfully applied in numerous diseases. Herein, we investigate the vibration profile of plasma chemical bonds in patients with FD through attenuated total reflectance Fourier transform infrared (ATR-FTIR) vibrational spectroscopy. Results The Fabry disease group (n = 47) and the healthy control group (n = 52) were analyzed with similar ages (39.2 ± 16.9 and 36.7 ± 10.9 years, respectively), and women were predominant in both groups (59,6% vs. 65,4%). All patients had the classic phenotype (100%), and no late-onset phenotype was detected. PLS-DA classification model independent of gender allowed differentiation of the samples between Fabry and the control group, reaching 100% sensitivity, specificity, and accuracy. Conclusion ATR-FTIR spectroscopy associated with pattern recognition can distinguish between FD patients and healthy control participants as a fast-screening test.