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

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

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 neurodeg...

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Bibliographic Details
Main Authors: Marya S. Sabir, Lynne Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl, Marjan Huizing, Frances M. Platt, May Christine V. Malicdan
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Rare
Subjects:
Salla disease
Sialin
Lipid metabolism
Glycosphingolipids
Gangliosides
Leukodystrophy
Online Access:http://www.sciencedirect.com/science/article/pii/S2950008725000092
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