PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.

@article{Khayat2008PNPODA,
  title={PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.},
  author={Morad Khayat and Stanley H. Korman and Pnina Frankel and Zalman Weintraub and Sylvia Hershckowitz and Vered Fleisher Sheffer and Mordechai Ben Elisha and Ronald A Wevers and Tzipora C Falik-Zaccai},
  journal={Molecular genetics and metabolism},
  year={2008},
  volume={94 4},
  pages={431-4}
}
The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal and infantile seizures. Clinical evaluation, and biochemical and genetic testing, were performed on a neonate with intractable seizures who did not respond to anticonvulsant drugs and pyridoxine. Sequencing of the PNPO gene… CONTINUE READING