Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins

J Inherit Metab Dis. 2002 Oct;25(6):517-8. doi: 10.1023/a:1021215605013.

Abstract

Prenatal diagnosis was performed by both DNA and enzymatic analysis on non-identical twins conceived by in vitro fertilization and at risk of succinate semialdehyde dehydrogenase deficiency. One fetus was predicted to be affected and one unaffected and selective fetal reduction was performed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aldehyde Oxidoreductases / deficiency*
  • Alleles
  • Chorionic Villi Sampling
  • Female
  • Fertilization in Vitro
  • Humans
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / enzymology
  • Pregnancy
  • Prenatal Diagnosis
  • Succinate-Semialdehyde Dehydrogenase
  • Twins, Dizygotic

Substances

  • Aldehyde Oxidoreductases
  • ALDH5A1 protein, human
  • Succinate-Semialdehyde Dehydrogenase