Untargeted Lipidomics in Fabry Disease of Urine Samples by Low-Resolution Flow Injection Mass Spectrometry...

Area of Science:

• Biochemistry
• Genetics
• Medical Diagnostics

Background:

• Fabry disease (FD) is a genetic lysosomal storage disorder impacting multiple organs due to enzyme deficiency.
• Accumulated glycosphingolipids and metabolites impair heart, brain, and kidney function.
• Early diagnosis and treatment significantly improve clinical outcomes in FD.

Purpose of the Study:

• To evaluate novel diagnostic methods for FD utilizing lipidomics.
• To apply multivariate analyses for enhanced diagnostic performance.
• To investigate the utility of urine as a specimen for FD diagnosis.

Main Methods:

• Urine samples were collected from confirmed FD patients and controls.
• Lipid extraction followed by mass spectrometry (ESI(±)) was performed on 81 samples.
• Multivariate analyses, including Principal Component Analysis (PCA) and Partial Least Squares Discriminant Analysis (PLS-DA), were employed.

Main Results:

• The combined positive and negative ionization modes in PLS-DA achieved 92% accuracy in differentiating FD cases from controls.
• This indicates a high degree of discriminatory power for the lipidomic approach.

Conclusions:

• Lipidomics combined with multivariate analysis shows promise as a tool for early FD diagnosis.
• This approach can contribute to improved healthcare strategies for FD patients.
• The proposed method offers a potential advancement in diagnosing lysosomal storage diseases.