Untargeted Lipidomics in Fabry Disease of Urine Samples by Low-Resolution Flow Injection Mass Spectrometry (ESI(±)-LTQ MS).

ABSTRACT:

Background

Fabry disease (FD) is a lysosomal storage disease caused by genetic mutations related to the coding of the enzyme α-galactosidase A, which is responsible for the metabolism of glycosphingolipids such as globotriaosylceramide and globotriaosylsphingosine. The accumulation of these and other metabolites can occur in various types of cells and impair the functioning of multiple organs and systems, such as the heart, brain, and kidneys. However, with early diagnosis and appropriate therapeutic intervention, the clinical outcome can be significantly improved. This study aimed to analyze the performance of new diagnostic methods for FD using the broad field of lipidomics combined with multivariate analyses, proposing the use of urine as a specimen.

Materials and methods

SUBMITTER: Foletto RA 

PROVIDER: S-EPMC12242645 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature