Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

Ann Neurol. 1998 Aug;44(2):261-5. doi: 10.1002/ana.410440219.

Abstract

3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is an inborn error of serine biosynthesis. Patients are affected with congenital microcephaly, 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. Addition of glycine 200 mg/kg/day resulted in complete disappearance of seizures. Electroencephalographic abnormalities gradually resolved after 6 months. We conclude that 3-PGDH can be treated effectively by a combination of L-serine and glycine.

Publication types

  • Case Reports

MeSH terms

  • Carbohydrate Dehydrogenases / deficiency*
  • Child
  • Child, Preschool
  • Drug Therapy, Combination
  • Electroencephalography / drug effects
  • Glycine / blood
  • Glycine / cerebrospinal fluid
  • Glycine / pharmacology
  • Glycine / therapeutic use*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / etiology*
  • Male
  • Microcephaly / etiology*
  • Phosphoglycerate Dehydrogenase
  • Seizures / drug therapy*
  • Seizures / enzymology
  • Seizures / etiology
  • Serine / blood
  • Serine / cerebrospinal fluid
  • Serine / pharmacology
  • Serine / therapeutic use*
  • Tetrahydrofolates / cerebrospinal fluid

Substances

  • Tetrahydrofolates
  • Serine
  • Carbohydrate Dehydrogenases
  • Phosphoglycerate Dehydrogenase
  • Glycine
  • 5-methyltetrahydrofolate