Term Name:	pyridoxamine 5'-phosphate oxidase deficiency
Synonyms:	PNPO deficiency, PNPO-related neonatal epileptic encephalopathy, pyridoxal 5'-phosphate-dependent epilepsy, pyridoxal phosphate-dependent seizures, pyridoxal phosphate-responsive seizures, pyridoxamine 5'-oxidase deficiency, pyridoxamine 5-prime-phosphate oxidase deficiency
Definition:	A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32.
Ontology:	Human Disease [DOID:0111329]   ( DOID:0111329 )