Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder

ABSTRACT Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem neurodegenerative disease caused by biallelic pathogenic variants in SLC17A5, encoding sialin. FSASD is characterized by aberrant accumulation of unconjugated “free” sialic acid (Neu5Ac) within lysosomes. Depending o...

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Bibliographic Details
Main Authors: Marya S. Sabir, Laura Pollard, Lynne Wolfe, David R. Adams, Carla Ciccone, Petcharat Leoyklang, Frances M. Platt, Marjan Huizing, William A. Gahl, May Christine V. Malicdan
Format: Article
Language:English
Published: Wiley 2025-07-01
Series:JIMD Reports
Subjects:
leukocytes
lysosomal storage disorders
Salla disease
sialic acid
sialin
SLC17A5
Online Access:https://doi.org/10.1002/jmd2.70029
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https://doi.org/10.1002/jmd2.70029

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