Maternal gamma-cystathionase deficiency: absence of both teratogenic effects and pregnancy complications.

Vargas, J E; Mudd, S H; Waisbren, S E; Levy, H L · Am J Obstet Gynecol · 1999

case_report · Level V

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Abstract

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.

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