Free Sialic Acid Storage Disease without Sialuria

F Mochel, BZ Yang, J Barritault, JN Thompson, UFH Engelke, NH McNeill, WS Benko, CR Kaneski, DR Adams, M Tsokos, M Abu-Asab, M Huizing, F Seguin, RA Wevers, JH (Jin Hui) Ding, Frans Verheijen, R Schiffmann

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We performed high-resolution in vitro proton nuclear magnetic resonance spectroscopy on cerebrospinal fluid and Urine samples of 44 patients with leukodystrophies Of Unknown cause. Free sialic acid concentration was increased in cerebrospinal fluid of two siblings with mental retardation and mild hypomyelination. By, contrast, urinary excretion of free sialic acid in urine was normal oil repeated testing by two independent methods. Both patients were homozygous for the K136E mutation in SLC17A5, the gene responsible for the free sialic acid storage diseases. Our findings demonstrate that mutations ill the SLC17A5 gene have to be considered in patients with hypomyelination, even in the absence of sialuria.
Original languageUndefined/Unknown
Pages (from-to)753-757
Number of pages5
JournalAnnals of Neurology
Issue number6
Publication statusPublished - 2009

Research programs

  • EMC MGC-02-96-01

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