Variation in argininosuccinate synthetase activity in amniotic fluid cell cultures: implications for prenatal diagnosis of citrullinemia.

Argininosuccinate synthetase activity was measured in amniotic fluid cells cultured from 25 normal fetuses and from 2 fetuses at risk for citrullinemia. Among the 25 control lines, argininosuccinate synthetase was low in epithelial-like cultures and high in more fibroblast-like cultures. The radioactivity incorporated from 14C-citrulline into protein was proportional to argininosuccinate synthetase activity. The activity of argininosuccinate lyase, the next enzyme in the urea cycle, was unaffected by a predominance of one or the other cell type. Argininosuccinate synthetase was low but detectable in cells from the two fetuses at risk for citrullinemia. The pregnancies were continued and both resulted in clinically normal females. Thus factors such as predominant cell type may affect area cycle enzyme activity in cultured amniotic fluid cells and should be taken into consideration in attempts to diagnose citrullinemia prenatally.