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

Area of Science:

• Biochemistry
• Spectroscopy
• Medical Diagnostics

Background:

• Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by alpha-galactosidase-A (α-Gal A) deficiency due to GLA gene mutations.
• Current α-Gal A activity tests are limited, primarily effective for males.
• Infrared (IR) spectroscopy offers a molecular fingerprinting approach for disease screening.

Purpose of the Study:

• To investigate the potential of attenuated total reflection Fourier-transform IR (ATR-FTIR) spectroscopy to identify Fabry disease.
• To analyze the discriminating vibration profile of plasma chemical bonds in FD patients.

Main Methods:

• Utilized ATR-FTIR spectroscopy to analyze plasma samples from 47 FD patients and 52 healthy controls.
• Employed partial least squares discriminant analysis (PLS-DA) for classification modeling.
• Ensured age-matching and considered gender distribution in study groups.

Main Results:

• The PLS-DA model successfully differentiated FD patients from healthy controls with 100% sensitivity, specificity, and accuracy.
• The classification model was independent of gender, overcoming limitations of current screening methods.
• All analyzed FD patients presented with the classic phenotype.

Conclusions:

• ATR-FTIR spectroscopy combined with pattern recognition algorithms provides a robust method for distinguishing FD patients.
• This technique holds promise as a fast, inexpensive, and gender-independent screening tool for Fabry disease.