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

Research output: Contribution to journalArticle


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.


  • Tom J. De Koning
  • Marinus Duran
  • Lambertus Dorland
  • Rob Gooskens
  • Emile Van Schaftingen
  • Jaak Jacken
  • Nenad Blau
  • Ruud Berger
  • Bwee Tien Poll-The
External organisations
  • Wilhelmina Children’s Hospital
  • University Hospitals Leuven
  • University of Zurich
Original languageEnglish
Pages (from-to)261-265
Number of pages5
JournalAnnals of Neurology
Issue number2
Publication statusPublished - 1998 Aug 1
Publication categoryResearch
Externally publishedYes