PNPO deficiency: An under diagnosed inborn error of pyridoxine metabolism

Morad Khayat, Stanley H. Korman, Pnina Frankel, Zalman Weintraub, Sylvia Hershckowitz, Vered Fleisher Sheffer, Mordechai Ben Elisha, Ronald A. Wevers, Tzipora C. Falik-Zaccai

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49 Scopus citations


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 revealed a novel homozygous c.284G>A transition in exon 3, resulting in arginine to histidine substitution and reduced activity of the PNPO mutant to 18% relative to the wild type. This finding enabled molecular prenatal diagnosis in a subsequent pregnancy, accurate genetic counseling in the large inbred family, and population screening.

Original languageEnglish
Pages (from-to)431-434
Number of pages4
JournalMolecular Genetics and Metabolism
Issue number4
StatePublished - Aug 2008
Externally publishedYes


  • Neonatal seizures
  • PNPO deficiency
  • Pyridoxal phosphate (PLP)
  • Pyridoxamine
  • Pyridoxine 5′-phosphate oxidase (PNPO)


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