谷胱甘肽合成酶缺乏症的产前诊断。

Prenatal diagnosis of glutathione synthase deficiency.

作者信息

Manning N J, Davies N P, Olpin S E, Carpenter K H, Smith M F, Pollitt R J, Duncan S L, Larsson A, Carlsson B

机构信息

Sheffield Children's Hospital, Western Bank, UK.

出版信息

Prenat Diagn. 1994 Jun;14(6):475-8. doi: 10.1002/pd.1970140611.

DOI:10.1002/pd.1970140611

PMID:7937585

Abstract

Prenatal diagnosis for glutathione synthase (EC 6.3.2.3) deficiency in two pregnancies of an at-risk couple was performed on amniotic fluid taken at 16 weeks' gestation. 5-Oxoproline (pyroglutamic acid) levels were 970 and 790 mumol/l compared with the normal mean value of 29 mumol/l (range 13-51 mumol/l). The pregnancies were terminated and the diagnosis in one case was subsequently confirmed by assay of glutathione synthase in cultured fetal fibroblasts. In the other, post-mortem tissue samples failed to grow.

摘要

对一对高危夫妇的两次妊娠进行了谷胱甘肽合成酶（EC 6.3.2.3）缺乏症的产前诊断，在妊娠16周时采集羊水进行检测。5-氧脯氨酸（焦谷氨酸）水平分别为970和790μmol/L，而正常平均值为29μmol/L（范围13 - 51μmol/L）。这两次妊娠均终止，其中一例通过检测培养的胎儿成纤维细胞中的谷胱甘肽合成酶，随后确诊。另一例中，尸检组织样本未能生长。