Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.

@article{Ware2014TypicalAA,
  title={Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.},
  author={Tyson L Ware and John Earl and Gajja Sophi Salomons and Eduard Alexander Struys and Heidi L. Peters and K B Howell and James Jonathon Pitt and Jeremy L. Freeman},
  journal={Developmental medicine and child neurology},
  year={2014},
  volume={56 5},
  pages={498-502}
}
Pyridox(am)ine phosphate oxidase (PNPO) deficiency causes severe early infantile epileptic encephalopathy and has been characterized as responding to pyridoxal-5'-phosphate but not to pyridoxine. Two males with PNPO deficiency and novel PNPO mutations are reported and their clinical, metabolic, and video-electroencephalographic (EEG) findings described. The first child showed electro-clinical responses to pyridoxine and deterioration when pyridoxine was withheld. At last review, he has well… CONTINUE READING
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