BENEFICIAL-EFFECTS OF L-SERINE AND GLYCINE IN THE MANAGEMENT OF SEIZURES IN 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY

3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is an inborn erro r of serine biosynthesis. Patients are affected with congenital microc ephaly, psychomotor retardation, and intractable seizures. The effects of oral treatment with amino acids were investigated in 2 siblings. L -Serine up to 500 mg/kg/day was not sufficient for seizure control. Ad dition of glycine 200 mg/kg/day resulted in complete disappearance of seizures. Electroencephalographic abnormalities gradually resolved aft er 6 months. We conclude that 3-PGDH can be treated effectively by a c ombination of L-serine and glycine.