has material basis in germline mutation in disease responds to PNPO pyridoxal 5'-phosphate pyridoxal phosphate-responsive seizures https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#pyridoxine https://www.malacards.org/card/pyridoxamine_5_prime_phosphate_oxidase_deficiency PNPO-related neonatal epileptic encephalopathy icd11.foundation:604024463 MESH:C566449 seizures, pyridoxine-resistant, PLP-sensitive pyridox(am)ine 5’-phosphate oxidase deficiency pyridoxine-5'-phosphate oxidase deficiency pyridoxamine 5-prime-phosphate oxidase deficiency OMIM:610090 GARD:0010730 pyridoxine 5' phosphate oxidase deficiency pyridoxamine 5'-phosphate oxidase deficiency PNPOD Orphanet:79096 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. MONDO:0012407 PNPO deficiency pyridoxal 5'-phosphate-dependent epilepsy UMLS:C1864723 SCTID:724576005 DOID:0111329 Pnpo deficiency MEDGEN:350498 pyridoxal phosphate-dependent seizures icd11.foundation:1632334328 epileptic encephalopathy, neonatal, Pnpo-related inborn disorder of pyridoxine metabolism metabolic epilepsy hereditary neurological disease