Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (PNPOD)

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency, also known as pnpo deficiency, is related to early infantile epileptic encephalopathy and west syndrome, and has symptoms including myoclonus and seizures. An important gene associated with Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency is PNPO (Pyridoxamine 5'-Phosphate Oxidase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Folic acid and Pyridoxal phosphate have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are status epilepticus and epileptic encephalopathy