Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder.

ABSTRACT: Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem disease caused by biallelic pathogenic variants in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, sialin. Defective sialin function leads to sialic acid accumulation in lysosomes, contributing to neurodegeneration. While glycosphingolipid (GSL) metabolism is altered in other lysosomal storage disorders, its role in FSASD remains poorly understood, especially due to the restricted availability of biospecimens. This study investigated GSL levels in FSASD plasma and cerebrospinal fluid (CSF) using two normal-phase high-performance liquid chromatography assays. In plasma, GM1a was significantly elevated, while GM2 was decreased, with no significant alterations in other GSL species. In CSF, to

SUBMITTER: Sabir MS 

PROVIDER: S-EPMC11845233 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature