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Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy

  • Original Article
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Journal of Inherited Metabolic Disease

Summary

Neonatal epileptic encephalopathy can be caused by inborn errors of metabolism. These conditions are often unresponsive to treatment with conventional antiepileptic drugs. Six children with pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency presented with neonatal epileptic encephalopathy. Two were treated with pyridoxal 5′-phosphate (PLP) within the first month of life and showed normal development or moderate psychomotor retardation thereafter. Four children with late or no treatment died or showed severe mental handicap. All of the children showed atypical biochemical findings. Prompt treatment with PLP in all neonates and infants with epileptic encephalopathy should become mandatory, permitting normal development in at least some of those affected with PNPO deficiency.

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Abbreviations

PLP:

pyridoxal 5′-phosphate

PNPO:

pyridox(am)ine-5′-phosphate oxidase

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Authors and Affiliations

  1. Department of General Pediatrics, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany

    G. F. Hoffmann

  2. Division of Clinical Neurophysiology, University Children’s Hospital Zürich, Zürich, Switzerland

    B. Schmitt

  3. Childrens Hospital Dortmund, Dortmund, Germany

    M. Windfuhr, N. Wagner & H. Strehl

  4. Department of Neonatology, Center for Pediatrics, University of Bonn, Bonn, Germany

    S. Bagci & A. R. Franz

  5. University College London Institute of Child Health, London, UK

    P. B. Mills & P. T. Clayton

  6. Divison of Metabolism and Molecular Pediatrics, University Children’s Hospital Zürich, Zürich, Switzerland

    M. R. Baumgartner & B. Steinmann

  7. Department of Neuropediatrics, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany

    T. Bast & N. I. Wolf

  8. Institute of Human Genetics, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany

    J. Zschocke

Authors
  1. G. F. Hoffmann
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  2. B. Schmitt
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  3. M. Windfuhr
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  4. N. Wagner
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  5. H. Strehl
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  6. S. Bagci
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  7. A. R. Franz
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  8. P. B. Mills
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  9. P. T. Clayton
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  10. M. R. Baumgartner
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  11. B. Steinmann
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  12. T. Bast
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  13. N. I. Wolf
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  14. J. Zschocke
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Corresponding author

Correspondence to J. Zschocke.

Additional information

Communicating editor: Michael Gibson

Competing interests: None declared

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Hoffmann, G.F., Schmitt, B., Windfuhr, M. et al. Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis 30, 96–99 (2007). https://doi.org/10.1007/s10545-006-0508-4

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  • DOI: https://doi.org/10.1007/s10545-006-0508-4

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