Journal of Inherited Metabolic Disease

, Volume 30, Issue 1, pp 96–99

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

  • G. F. Hoffmann
  • B. Schmitt
  • M. Windfuhr
  • N. Wagner
  • H. Strehl
  • S. Bagci
  • A. R. Franz
  • P. B. Mills
  • P. T. Clayton
  • M. R. Baumgartner
  • B. Steinmann
  • T. Bast
  • N. I. Wolf
  • J. Zschocke
Original Article

DOI: 10.1007/s10545-006-0508-4

Cite this article as:
Hoffmann, G.F., Schmitt, B., Windfuhr, M. et al. J Inherit Metab Dis (2007) 30: 96. doi:10.1007/s10545-006-0508-4

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.

Abbreviations

PLP

pyridoxal 5′-phosphate

PNPO

pyridox(am)ine-5′-phosphate oxidase

Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  • G. F. Hoffmann
    • 1
  • B. Schmitt
    • 2
  • M. Windfuhr
    • 3
  • N. Wagner
    • 3
  • H. Strehl
    • 3
  • S. Bagci
    • 4
  • A. R. Franz
    • 4
  • P. B. Mills
    • 5
  • P. T. Clayton
    • 5
  • M. R. Baumgartner
    • 6
  • B. Steinmann
    • 6
  • T. Bast
    • 7
  • N. I. Wolf
    • 7
  • J. Zschocke
    • 8
  1. 1.Department of General PediatricsRuprecht-Karls-University HeidelbergHeidelbergGermany
  2. 2.Division of Clinical NeurophysiologyUniversity Children’s Hospital ZürichZürichSwitzerland
  3. 3.Childrens Hospital DortmundDortmundGermany
  4. 4.Department of Neonatology, Center for PediatricsUniversity of BonnBonnGermany
  5. 5.University College London Institute of Child HealthLondonUK
  6. 6.Divison of Metabolism and Molecular PediatricsUniversity Children’s Hospital ZürichZürichSwitzerland
  7. 7.Department of NeuropediatricsRuprecht-Karls-University HeidelbergHeidelbergGermany
  8. 8.Institute of Human GeneticsRuprecht-Karls-University HeidelbergHeidelbergGermany

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