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:
  • pyridoxine hydrochloride (if defect is in ALDH7A1)
  • pyridoxal-5'-phosphate (if defect is in PNPO)

More general terms

• epilepsy
• inborn error of metabolism

Additional terms

• pyridoxine (a vitamin B6)

Database

• OMIM: https://mirror.omim.org/entry/266100
• OMIM: https://mirror.omim.org/entry/610090