Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy.
Pearl
P L
PL
Gospe
S M
SM
D000444:Aldehyde Dehydrogenase / Q000172:deficiency; D004827:Epilepsy / Q000188:drug therapy* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D011732:Pyridoxal Phosphate / Q000627:therapeutic use; D011734:Pyridoxaminephosphate Oxidase / Q000172:deficiency*; D011736:Pyridoxine / Q000378:metabolism / Q000627:therapeutic use
D011732:Pyridoxal Phosphate; D000444:Aldehyde Dehydrogenase; D011734:Pyridoxaminephosphate Oxidase; D011736:Pyridoxine