Infrared spectroscopy as a new approach for early Fabry disease screening: a pilot study

Abstract 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 within lysosomes. The current screening test consists of measuring α-Gal A activity. However, this approach is limited to males. Infrared (IR) spectroscopy is a technique that can generate fingerprint spectra of a biofluid’s molecular composition and has been successfully applied to screen numerous diseases. Herein, we investigate the vibration profile of plasma chemical bonds in patients with FD through attenuated total reflection Fourier-transform IR (ATR-FTIR) spectroscopy. Results The Fabry disease group (n = 47) and the healthy control group (n = 52) recruited exhibited similar ages (39.2 ± 16.9 and 36.7 ± 10.9 years, respectively), and females 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 groups, reaching 100% sensitivity, specificity and accuracy. Conclusion ATR-FTIR spectroscopy harnessed to pattern recognition algorithms can distinguish between FD patients and healthy control participants as a fast-screening test.