LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease.

ABSTRACT:

Introduction

Lipidomics analysis or lipid profiling is a system-based analysis of all lipids in a sample to provide a comprehensive understanding of lipids within a biological system. In the last few years, lipidomics has made it possible to better understand the metabolic processes associated with several rare disorders and proved to be a powerful tool for their clinical investigation. Fabry disease is a rare X-linked lysosomal storage disorder (LSD) caused by a deficiency in α-galactosidase A (α-GAL A). This deficiency results in the progressive accumulation of glycosphingolipids, mostly globotriaosylceramide (Gb₃), globotriaosylsphingosine (lyso-Gb₃), as well as galabiosylceramide (Ga₂) and their isoforms/analogs in the vascular endothelium, nerv

SUBMITTER: Yazd HS 

PROVIDER: S-EPMC8646168 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature