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Prenatal diagnosis of citrullinemia: Elevated levels of citrulline in the amniotic fluid in the three affected pregnancies |
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| Authors: | W J Kleijer W Blom J G M Huijmans M C T Mooyman R Berger M F Niermeijer |
| Institution: | 1. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, Rotterdam, The Netherlands;2. Department of Pediatrics, Sophia Children's Hospital, Erasmus University, Rotterdam, The Netherlands;3. Department of Pediatrics, Laboratory of Developmental Biochemistry, State University of Groningen, The Netherlands |
| Abstract: | In three pregnancies at risk for citrullinemia affected fetuses were predicted both by strongly increased levels of citrulline in the amniotic fluid and by the reduced incorporation of 14C-citrulline into TCA-precipitable material in cultured amniotic fluid cells. The prenatal diagnoses of affected fetuses were confirmed after termination of the pregnancies by direct and indirect assays of argininosuccinate synthetase in the fetal livers and fibroblasts respectively. Measurement of the citrulline concentration in amniotic fluid appears to be a valuable adjunct in the prenatal diagnosis of citrullinemia. |
| Keywords: | Citrullinemia Amniotic fluid citrulline Argininosuccinate synthetase deficiency |