Human genes for pyridoxamine 5'-phosphate oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency [DOID:0111329]
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.
Synonyms: pyridoxamine 5'-phosphate oxidase deficiency, DOID:0111329, pyridoxamine 5phosphate oxidase deficiency, PNPO deficiency, PNPO-related neonatal epileptic encephalopathy ...