Pyridoxal phosphate-responsive seizures
Pyridoxal phosphate-responsive seizures
Definition
A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.
Also known as PNPO deficiency, PNPO-related neonatal epileptic encephalopathy, pyridox(am)ine 5'-phosphate oxidase deficiency, pyridoxal phosphate-dependent seizures, pyridoxamine 5'-phosphate oxidase deficiency, pyridoxine 5' phosphate oxidase deficiency — per MONDO