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

doi:10.1002/ana.21624

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 journal › Article › peer-review

12 Scopus citations

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 language	English (US)
Pages (from-to)	753-757
Number of pages	5
Journal	Annals of Neurology
Volume	65
Issue number	6
DOIs	https://doi.org/10.1002/ana.21624
State	Published - Jun 1 2009
Externally published	Yes

ASJC Scopus subject areas

Neurology
Clinical Neurology

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Mochel, F., Yang, B., Barritault, J., Thompson, J. N., Engelke, U. F. H., McNeill, N. H., Benko, W., Kaneski, C. R., Adams, D. R., Tsokos, M., Abu-Asab, M., Huizing, M., Seguin, F., Wevers, R. A., Ding, J., Verheijen, F. W., & 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 journal › Article › peer-review

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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