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Maternal gamma-cystathionase deficiency: absence of both teratogenic effects and pregnancy complications
J E Vargas1, S H Mudd, S E Waisbren
1Division of Genetics, Children's Hospital, Harvard Medical School, Boston, USA.
gamma-Cystathionase deficiency (cystathioninemia-cystathioninuria) is a disorder of the transsulfuration pathway characterized by the accumulation of cystathionine in blood and urine. There are probably no clinical consequences. However, maternal gamma-cystathionase deficiency has not been reported. We studied 2 pregnancies and the offspring of these pregnancies in a woman with the pyridoxine-nonresponsive form of the disorder. The outcomes were favorable, suggesting that maternal gamma-cystathionase deficiency may not be deleterious to the pregnant woman or the fetus.
gamma-Cystathionase deficiency (cystathioninemia-cystathioninuria) is a disorder of the transsulfuration pathway characterized by the accumulation of cystathionine in blood and urine. There are probably no clinical consequences. However, maternal gamma-cystathionase deficiency has not been reported. We studied 2 pregnancies and the offspring of these pregnancies in a woman with the pyridoxine-nonresponsive form of the disorder. The outcomes were favorable, suggesting that maternal gamma-cystathionase deficiency may not be deleterious to the pregnant woman or the fetus.