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Prenatal diagnosis of glutathione synthase deficiency |
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| Authors: | N J Manning Mr N P Davies S E Olpin K H Carpenter M F Smith R J Pollitt S L B Duncan A Larsson B Carlsson |
| Institution: | 1. Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, U.K.;2. University Department of Obstetrics and Gynaecology, Jessop Hospital for Women, Sheffield S3 7RE, U.K.;3. Department of Paediatrics, Uppsala University Children's Hospital, 751 85 Uppsala, Sweden |
| 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 μmol/l compared with the normal mean value of 29 μmol/l (range 13–51 μmol/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. |
| Keywords: | Pyroglutamic acid 5-oxoproline amniotic fluid glutathione synthase deficiency prenatal diagnosis |