Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.

ABSTRACT:

Background

Fabry disease (FD) is an X-linked lysosomal disease due to a deficiency in the activity of the lysosomal α-galactosidase A (GalA), a key enzyme in the glycosphingolipid degradation pathway. FD is a complex disease with a poor genotype-phenotype correlation. FD could involve kidney, heart or central nervous system impairment that significantly decreases life expectancy. The advent of omics technologies offers the possibility of a global, integrated and systemic approach well-suited for the exploration of this complex disease.

Materials and methods

Sixty-six plasmas of FD patients from the French Fabry cohort (FFABRY) and 60 control plasmas were analyzed using liquid chromatography and mass spectrometry-based targeted metabolomics (188 metabolites) along with the de

SUBMITTER: Ducatez F 

PROVIDER: S-EPMC8468728 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature