Free sialic acid storage disease without sialuria

Fanny Mochel, Bingzhi Yang, Julie Barritault, Jerry N. Thompson, Udo F.H. Engelke, Nathan H. McNeill, William Benko, Christine R. Kaneski, David R. Adams, Maria Tsokos, Mones Abu-Asab, Marjan Huizing, Francois Seguin, Ron A. Wevers, Jiahuan Ding, Frans W. Verheijen, Raphael Schiffmann

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


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 on 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 in the SLC17A5 gene have to be considered in patients with hypomyelination, even in the absence of sialuria.

Original languageEnglish (US)
Pages (from-to)753-757
Number of pages5
JournalAnnals of Neurology
Issue number6
StatePublished - Jun 1 2009
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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