Contents

Search

pyridoxine-dependent epilepsy; neonatal epileptic encephalopathy; pyridoxine-5'-phosphate oxidase deficiency; PNPO deficiency

Pathology: - combination of various seizure types Genetics: - associated with defects in ALDH7A1 - associated with defects in PNPO Clinical manifestations: - generally occurs in the 1st hours of life - unresponsive to standard anticonvulsants Management: - unresponsive to anticonvulsants - responds only to administration of: a) pyridoxine hydrochloride (if defect is in ALDH7A1) b) pyridoxal-5'-phosphate (if defect is in PNPO)

Related

pyridoxine (a vitamin B6)

General

epilepsy inborn error of metabolism

Database Correlations

OMIM correlations

References

  1. OMIM :accession 266100
  2. OMIM :accession 610090