Antenatal diagnosis of molybdenum cofactor deficiency

Am J Obstet Gynecol. 1990 Oct;163(4 Pt 1):1203-4. doi: 10.1016/0002-9378(90)90691-y.

Abstract

Analysis of uncultured chorionic villus material from a woman at risk of fetus with sulfite oxidase deficiency revealed a deficiency of sulfite oxidase. This was confirmed on termination of the pregnancy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis
  • Amniotic Fluid / cytology
  • Cells, Cultured
  • Chorionic Villi / enzymology
  • Coenzymes / deficiency*
  • Female
  • Humans
  • Metalloproteins*
  • Molybdenum / deficiency*
  • Molybdenum Cofactors
  • Oxidoreductases Acting on Sulfur Group Donors / deficiency
  • Pregnancy
  • Prenatal Diagnosis*
  • Pteridines*

Substances

  • Coenzymes
  • Metalloproteins
  • Molybdenum Cofactors
  • Pteridines
  • Molybdenum
  • molybdenum cofactor
  • Oxidoreductases Acting on Sulfur Group Donors