Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report.

@article{Porri2014PositiveOF,
  title={Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report.},
  author={Stephanie Porri and Joel Fluss and Barbara R Plecko and Eduard Paschke and Christian M Korff and Ilse Kern},
  journal={Neuropediatrics},
  year={2014},
  volume={45 1},
  pages={64-8}
}
Pyridoxal-5'-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive, vitamin-responsive metabolic disorder causing refractory neonatal seizures that respond to the administration of pyridoxal-5'-phosphate (PLP). There are currently few case studies that have documented the functional outcome in PNPO deficiency, which remains poor in the majority of cases. We present the case of a male infant born at 35 weeks gestation who promptly responded to oral administration of PLP, following… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 1 time over the past 90 days. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-8 of 8 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 12 references

Molecular basis of reduced pyridoxine 5′-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder

  • FN Musayev, ML Di Salvo, MA Saavedra
  • J Biol Chem
  • 2014

PNPO mutations in patients with pyridoxine dependent epilepsy [Abstract

  • B Plecko, K Paul, E Paschke
  • Neuropediatrics 2013;44(2):FV12_07 DOI: 10.1055/s…
  • 2013

Similar Papers

Loading similar papers…