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Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples
Author(s) -
Johnson J. L.,
Rajagopalan K. V.,
Lanman J. T.,
Schutgens R. B. H.,
Gennip A. H.,
Sorensen P.,
Applegarth D. A.
Publication year - 1991
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800477
Subject(s) - chorionic villi , prenatal diagnosis , cofactor , chorionic villus sampling , molybdenum cofactor , sulfite oxidase , molybdenum , chemistry , human genetics , pregnancy , biochemistry , medicine , enzyme , biology , genetics , endocrinology , fetus , gene , inorganic chemistry
Summary 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.