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

T J de Koning, M Duran, L Dorland, R Gooskens, E Van Schaftingen, J Jaeken, N Blau, R Berger, B T Poll-The

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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.

Original languageEnglish
Pages (from-to)261-265
Number of pages5
JournalAnnals of Neurology
Issue number2
Publication statusPublished - Aug-1998
Externally publishedYes


  • Carbohydrate Dehydrogenases
  • Child
  • Child, Preschool
  • Drug Therapy, Combination
  • Electroencephalography
  • Glycine
  • Humans
  • Infant, Newborn
  • Intellectual Disability
  • Male
  • Microcephaly
  • Phosphoglycerate Dehydrogenase
  • Seizures
  • Serine
  • Tetrahydrofolates
  • Case Reports
  • Journal Article

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