PNPO deficiency patients develop epilepsy, prematurity and fetal distress, along with newborn seizures.
To suspect PNPO deficiency: refractory seizures not responding to conventional antiepileptic medications, unusual abnormal fetal movement, history of recurrent fetal or neonatal deaths in the family, history of previous uncontrolled seizures, unjustified birth asphyxia.
PNPO