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Article

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.

Journal of inherited metabolic disease - 1 Mar 2026

Wolfenson Zoe, Grois Gabriella, Hailemeskel Ruth F, Sabaii Marla, Huryn Laryssa A, Zein Wadih M, Lehky Tanya, Thurm Audrey, Joseph Lisa, Baker Eva H, Vezina Gilbert, Hyland Keith, Pollard Laura, Macnamara Ellen, Gropman Andrea, Malicdan May C, Gahl William A, Adams David R, Wolfe Lynne

Abstract excerpt

Free sialic acid storage disorder (FSASD) is a lysosomal storage disorder that results from biallelic pathogenic variants in the SLC17A5 gene. This gene codes for sialin, a 12-transmembrane domain protein that exports the charged sugar N-acetylneuraminic acid (Neu5Ac; sialic acid) out of the lysosome. Dysfunctional sialin causes accumulation of free sialic acid within lysosomes and a range of clinical...

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Identifiers

PMID: 41879269
DOI: 10.1002/jimd.70148
PMCID: PMC13015179

Genes

ABR
SLC17A5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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