Prenatal diagnosis of glutathione synthase deficiency
1994; Wiley; Volume: 14; Issue: 6 Linguagem: Inglês
10.1002/pd.1970140611
ISSN1097-0223
AutoresN. J. Manning, Norman Davies, S. E. Olpin, Kevin Carpenter, M. F. Smith, R. J. Pollitt, Sheila L. B. Duncan, Agne Larsson, Birgit Carlsson,
Tópico(s)Folate and B Vitamins Research
ResumoAbstract 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.
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