Exclusion of citrullinaemia in the first trimester of pregnancy by direct assay of argininosuccinate synthetase in chorionic villi.
Citrullinaemia was presumed to be excluded in a fetus at risk by the direct assay of argininosuccinate synthetase in chorionic villi. The diagnosis was confirmed after amniocentesis by normal argininosuccinate synthetase activity in the cultured amniotic fluid cells and by a normal citrulline concentration in the amniotic fluid. The prediction of a normal fetus was confirmed at term by the birth of a non-citrullinaemic boy.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D001124:Argininosuccinate Synthase / Q000032:analysis*; D001706:Biopsy; D002824:Chorionic Villi / Q000201:enzymology*; D002956:Citrulline / Q000097:blood*; D005260:Female; D006801:Humans; D008025:Ligases / Q000032:analysis*; D008297:Male; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*
D002956:Citrulline; D008025:Ligases; D001124:Argininosuccinate Synthase