Return to PND Info Home
PNDDB - PNPO deficiency
OMIM 610090
Enzyme: Pyridoxamine 5'-phosphate oxidase (EC 1.4.3.5)
Reaction: Pyridoxamine 5'-phosphate > > Pyridoxal 5'-phosphate + NH3
DD:
Diagnosis: CSF, Blood, Urine, DNA CSF: Thr (high), Gly (high), 3OMD (high), L-Dopa (high), 5HTRP (high), 5HIAA (low), HVA (low) Urine: Vanillactic acid (high) Blood: Prolactin (high) DNA: see PNDDB
Clinical signs & symptoms: Neonatal epileptic encephalopathy
Treatment: PLP <15 mg/d - 4 doses/day
Alternative treatment:
