Repeated neural tube defects and valproate monotherapy suggest a pharmacogenetic abnormality

Epilepsia. 2001 Jun;42(6):750-3. doi: 10.1046/j.1528-1157.2001.44300.x.

Abstract

Valproate (VPA) is an effective, widely used antiepileptic drug. Unfortunately its use in pregnant women is associated with neural tube defects in the offspring. Although the etiology of neural tube defects is multifactorial, there is evidence that underlying genetic susceptibility plays a part. We describe two women taking moderate doses of VPA who repeatedly bore children with neural tube defects, despite folate supplementation. This suggests a pharmacogenetic susceptibility to the teratogenic effects of VPA.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anticonvulsants / adverse effects*
  • Anticonvulsants / metabolism
  • Anticonvulsants / therapeutic use
  • Epilepsy / drug therapy*
  • Epilepsy / metabolism
  • Female
  • Genetic Predisposition to Disease
  • Gravidity / genetics
  • Humans
  • Neural Tube Defects / chemically induced*
  • Neural Tube Defects / genetics
  • Pharmacogenetics
  • Pregnancy
  • Pregnancy Complications / drug therapy*
  • Pregnancy Outcome / genetics
  • Valproic Acid / adverse effects*
  • Valproic Acid / metabolism
  • Valproic Acid / therapeutic use

Substances

  • Anticonvulsants
  • Valproic Acid