Catalog
Pyridoxal dependent epilepsy
Link to WHO Definition
Pyridoxal dependent epilepsy – http://id.who.int/icd/entity/1632334328
Pyridoxal 5-phosphate dependent epilepsy usually presents with neonatal intractable seizures and is diagnosed by cerebrospinal fluid (CSF) analysis, gene testing, and clinical response. The majority of patients have pyridoxamine 5'-phosphate oxidase (PNPO) gene disease causing mutations. Early diagnosis and effective treatment can lead to a relatively favourable neurodevelopmental outcome.