WCN26-3754 NMR-BASED METABOLOMIC PROFILING REVEALS DISTINCT METABOLIC SIGNATURES ASSOCIATED WITH THE DEVELOPMENT AND PROGRESSION OF FABRY NEPHROPATHY

Fabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, leading to deficient α-galactosidase A activity and accumulation of globotriaosylceramides in multiple organs, including kidneys. Fabry nephropathy (FN) contributes to morbidity and mortality, as kidney dysfunction increases the risk of damage to other organ systems. Current biomarkers reflect only late-stage kidney damage, emphasizing the need for early, non-invasive biomarkers of kidney involvement.