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8A61.00 Pyridoxal dependent epilepsy

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

postcoordination

synonyms

• Pyridoxal dependent epilepsy

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