Huizing et al. Page 21 A HIGHLIGHTS: uthor Man • FSASD is an underdiagnosed neurodegenerative multisystem lysosomal storage disease • FSASD is caused by defects in the lysosomal free sialic acid exporter uscr SLC17A5 ipt • FSASD should be considered in individuals with hypomyelination on brain MRI • The SLC17A5 gene should be included in lysosomal storage disease (LSD) gene panels • A research consortium is generating preclinical data for FSASD drug A development uthor Man uscr ipt A uthor Man uscr ipt A uthor Man uscr ipt Neurosci Lett. Author manuscript; available in PMC 2021 June 11.