Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

Lancet. 2004 Dec 18-31;364(9452):2221-2. doi: 10.1016/S0140-6736(04)17596-X.

Abstract

3-phosphoglycerate-dehydrogenase (3-PGDH) deficiency is an L-serine biosynthesis disorder, characterised by congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report prenatal diagnosis of an affected fetus by DNA mutation analysis. Ultrasound assessment showed a reduction in fetal head circumference from the 75th percentile at 20 weeks' gestation to the 29th percentile at 26 weeks. L-serine was then given to the mother, which resulted in an enlarged fetal head circumference to the 76th percentile at 31 weeks. At birth, the girl's head circumference was normal, and at 48 months' follow-up, her psychomotor development has been unremarkable. 3-PGDH deficiency is an inborn metabolic error that can be successfully treated antenatally.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / drug therapy*
  • Brain / embryology
  • Carbohydrate Dehydrogenases / deficiency*
  • Chorionic Villi Sampling
  • Female
  • Fetal Therapies*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / prevention & control
  • Microcephaly / prevention & control
  • Phosphoglycerate Dehydrogenase
  • Pregnancy
  • Prenatal Diagnosis*
  • Serine / administration & dosage*
  • Serine / blood
  • Serine / metabolism
  • Ultrasonography, Prenatal

Substances

  • Serine
  • Carbohydrate Dehydrogenases
  • Phosphoglycerate Dehydrogenase