ICD-11 code : 8A61.00;
Preferred Label : Pyridoxal dependent epilepsy;
ICD-11 definition : 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 favorable neurodevelopmental outcome. Electroencephalographic
and seizure manifestations of pyridoxal 5?-phosphate-dependent epilepsy;
Origin ID : 1632334328;
ICD-10 Mapping
- Validated automatic mappings to NTBT
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 favorable neurodevelopmental outcome. Electroencephalographic
and seizure manifestations of pyridoxal 5?-phosphate-dependent epilepsy
