pyridoxamine 5'-phosphate oxidase deficiency (DOID:0111329)
Alliance: disease page
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
Alt IDs: OMIM:610090, MESH:C566449, ORDO:79096, UMLS_CUI:C1864723
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.