Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples.

Journal Article (Journal Article)

Molybdenum cofactor deficiency is characterized by the absence of sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase, the three known enzymes in man that require the cofactor for their activity. Prenatal diagnosis of the deficiency may be performed by assay of sulphite oxidase activity in cultured amniocytes. However, the activity in amniocytes is low and large numbers of cells are required for reliable assessment. We show that sulphite oxidase is present at high levels in chorionic villi obtained at 10-14 weeks gestation and can be assayed directly in the biopsy sample without cell culture. This assay has been applied to two pregnancies at risk for molybdenum cofactor deficiency with successful diagnoses of an unaffected and an affected fetus.

Full Text

Duke Authors

Cited Authors

  • Johnson, JL; Rajagopalan, KV; Lanman, JT; Schutgens, RB; van Gennip, AH; Sorensen, P; Applegarth, DA

Published Date

  • 1991

Published In

Volume / Issue

  • 14 / 6

Start / End Page

  • 932 - 937

PubMed ID

  • 1779653

International Standard Serial Number (ISSN)

  • 0141-8955

Digital Object Identifier (DOI)

  • 10.1007/BF01800477


  • eng

Conference Location

  • United States