Brief Communication

Free sialic acid storage disease without sialuria†

  1. Fanny Mochel MD1,2,*,
  2. Bingzhi Yang MD2,
  3. Julie Barritault BS3,
  4. Jerry N. Thompson PhD4,
  5. Udo F. H. Engelke PhD5,
  6. Nathan H. McNeill MS2,
  7. William S. Benko MD6,
  8. Christine R. Kaneski MS2,
  9. David R. Adams MD, PhD7,
  10. Maria Tsokos MD8,
  11. Mones Abu-Asab PhD8,
  12. Marjan Huizing PhD7,
  13. Francois Seguin PhD3,
  14. Ron A. Wevers PhD5,
  15. Jiahuan Ding MD2,
  16. Frans W. Verheijen PhD9,
  17. Raphael Schiffmann MD2

Article first published online: 18 MAR 2009

DOI: 10.1002/ana.21624

Issue

Annals of Neurology

Annals of Neurology

Volume 65, Issue 6, pages 753–757, June 2009

Additional Information

How to Cite

Mochel, F., Yang, B., Barritault, J., Thompson, J. N., Engelke, U. F. H., McNeill, N. H., Benko, W. S., Kaneski, C. R., Adams, D. R., Tsokos, M., Abu-Asab, M., Huizing, M., Seguin, F., Wevers, R. A., Ding, J., Verheijen, F. W. and Schiffmann, R. (2009), Free sialic acid storage disease without sialuria. Annals of Neurology, 65: 753–757. doi: 10.1002/ana.21624

Author Information

  1. 1

    Institut National de la Sante et de la Recherche Médicale UMR S679, Hôpital La Salpêtrière, Paris, France

  2. 2

    Institute of Metabolic Diseases, Baylor University Medical Center, Dallas, TX

  3. 3

    Institut National de la Sante et de la Recherche Médicale U927, Université de Poitiers, Hôpital La Milêtrie, Poitiers, France

  4. 4

    Department of Genetics, University of Alabama, Birmingham, AL

  5. 5

    Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

  6. 6

    WellSpan Neurosciences, Pediatric Neurology, York, PA

  7. 7

    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD

  8. 8

    Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD

  9. 9

    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands

*Institute of Metabolic Diseases, Baylor Research Institute, Baylor University Medical Center, 3812 Elm Street, Dallas, TX 75226

  1. †

    Potential conflict of interest: Nothing to report.

Publication History

  1. Issue published online: 25 JUN 2009
  2. Article first published online: 18 MAR 2009
  3. Accepted manuscript online: 18 MAR 2009 12:00AM EST
  4. Manuscript Accepted: 5 DEC 2008
  5. Manuscript Revised: 18 NOV 2008
  6. Manuscript Received: 10 OCT 2008

Funded by

  • NIH (Intramural Program of the National Institute of Neurological Disorders and Stroke)
  • Baylor Research Foundation

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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. Ann Neurol 2009;65:753–757

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