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 journalArticle

12 Citations (Scopus)

Abstract

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
Volume65
Issue number6
DOIs
StatePublished - Jun 1 2009
Externally publishedYes

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Sialic Acid Storage Disease
N-Acetylneuraminic Acid
Cerebrospinal Fluid
Urine
Mutation
Intellectual Disability
Genes
Siblings
Magnetic Resonance Spectroscopy
Free sialic acid storage disease

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Mochel, F., Yang, B., Barritault, J., Thompson, J. N., Engelke, U. F. H., McNeill, N. H., ... Schiffmann, R. (2009). Free sialic acid storage disease without sialuria. Annals of Neurology, 65(6), 753-757. https://doi.org/10.1002/ana.21624

Free sialic acid storage disease without sialuria. / Mochel, Fanny; Yang, Bingzhi; Barritault, Julie; Thompson, Jerry N.; Engelke, Udo F.H.; McNeill, Nathan H.; Benko, William; Kaneski, Christine R.; Adams, David R.; Tsokos, Maria; Abu-Asab, Mones; Huizing, Marjan; Seguin, Francois; Wevers, Ron A.; Ding, Jiahuan; Verheijen, Frans W.; Schiffmann, Raphael.

In: Annals of Neurology, Vol. 65, No. 6, 01.06.2009, p. 753-757.

Research output: Contribution to journalArticle

Mochel, F, Yang, B, Barritault, J, Thompson, JN, Engelke, UFH, McNeill, NH, Benko, W, Kaneski, CR, Adams, DR, Tsokos, M, Abu-Asab, M, Huizing, M, Seguin, F, Wevers, RA, Ding, J, Verheijen, FW & Schiffmann, R 2009, 'Free sialic acid storage disease without sialuria', Annals of Neurology, vol. 65, no. 6, pp. 753-757. https://doi.org/10.1002/ana.21624
Mochel F, Yang B, Barritault J, Thompson JN, Engelke UFH, McNeill NH et al. Free sialic acid storage disease without sialuria. Annals of Neurology. 2009 Jun 1;65(6):753-757. https://doi.org/10.1002/ana.21624
Mochel, Fanny ; Yang, Bingzhi ; Barritault, Julie ; Thompson, Jerry N. ; Engelke, Udo F.H. ; McNeill, Nathan H. ; Benko, William ; Kaneski, Christine R. ; Adams, David R. ; Tsokos, Maria ; Abu-Asab, Mones ; Huizing, Marjan ; Seguin, Francois ; Wevers, Ron A. ; Ding, Jiahuan ; Verheijen, Frans W. ; Schiffmann, Raphael. / Free sialic acid storage disease without sialuria. In: Annals of Neurology. 2009 ; Vol. 65, No. 6. pp. 753-757.
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