Maternal gamma-cystathionase deficiency: absence of both teratogenic effects and pregnancy complications.
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.
Vargas
J E
JE
Division of Genetics, Children's Hospital, Harvard Medical School, Boston, USA.
Mudd
S H
SH
Waisbren
S E
SE
Levy
H L
HL
D000328:Adult; D003540:Cystathionine / Q000097:blood / Q000652:urine; D003542:Cystathionine gamma-Lyase / Q000172:deficiency*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011248:Pregnancy Complications; D011256:Pregnancy Outcome
D003540:Cystathionine; D003542:Cystathionine gamma-Lyase