Citrullinemia: prenatal diagnosis of an affected fetus.

  title={Citrullinemia: prenatal diagnosis of an affected fetus.},
  author={Lynn D Fleisher and Cynthia J. Harris and Daniel A. Mitchell and Henry L. Nadler},
  journal={American journal of human genetics},
  volume={35 1},
We monitored a pregnancy in a family at risk for citrullinemia due to argininosuccinic acid (ASA) synthetase deficiency. ASA synthetase activity in cultured epithelioid amniotic fluid cells from the fetus at risk was less than 2% of control epithelioid amniotic fluid cell activity. An increased concentration of citrulline was found in the at-risk amniotic fluid (0.14 mumol/ml) as compared with fluid from six controls and one at-risk but unaffected pregnancy (trace). The pregnancy was terminated… CONTINUE READING

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