Families

Pyridoxamine-5’-phosphate oxidase (PNPO) deficiency is a rare genetic autosomal recessive which result in PLP-vitamin-responsive seizure, in which different functions of the brain is affected by the deficiency in PLP. Patients who has PNPO deficiency gets unmanageable seizures in the first year of life, prematurity and fetal distress, and newborn seizures.