戊二酸血症的产前诊断
Antenatal diagnosis of glutaric acidemia.
作者信息
Goodman S I, Gallegos D A, Pullin C J, Halpern B, Truscott R J, Wise G, Wilcken B, Ryan E D, Whelen D T
出版信息
Am J Hum Genet. 1980 Sep;32(5):695-9.
Abstract
Two pregnancies at risk for glutaric acidemia were monitored. In one, in which the fetus was not affected, glutaric acid was not detected in the amniotic fluid at amniocentesis (15 weeks) and the glutaryl-CoA dehydrogenase activity of cultured amniotic cells was normal. In the other, a marked elevation of glutaric acid in the amniotic fluid, together with deficiency of glutaryl-CoA dehydrogenase in amniotic cells, prompted termination of the pregnancy, and studies on the abortus confirmed the diagnosis of glutaric acidemia. Glutaric acidemia, is, thus, another inborn error of metabolism which can be diagnosed in utero.
摘要
对两例有戊二酸血症风险的妊娠进行了监测。其中一例胎儿未受影响，在羊膜穿刺术（孕15周）时羊水中未检测到戊二酸，培养的羊膜细胞中戊二酰辅酶A脱氢酶活性正常。另一例中，羊水戊二酸显著升高，同时羊膜细胞中戊二酰辅酶A脱氢酶缺乏，促使终止妊娠，对流产胎儿的研究证实了戊二酸血症的诊断。因此，戊二酸血症是另一种可在子宫内诊断的先天性代谢缺陷。
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