title: Prenatal diagnosis of glutathione synthase deficiency.
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.
authors.affiliation: Sheffield Children's Hospital, Western Bank, UK.
authors.forename: N J
authors.initials: NJ
authors.lastname: Manning
authors.forename: N P
authors.initials: NP
authors.lastname: Davies
authors.forename: S E
authors.initials: SE
authors.lastname: Olpin
authors.forename: K H
authors.initials: KH
authors.lastname: Carpenter
authors.forename: M F
authors.initials: MF
authors.lastname: Smith
authors.forename: R J
authors.initials: RJ
authors.lastname: Pollitt
authors.forename: S L
authors.initials: SL
authors.lastname: Duncan
authors.forename: A
authors.initials: A
authors.lastname: Larsson
authors.forename: B
authors.initials: B
authors.lastname: Carlsson
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000737:chemistry; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005981:Glutathione Synthase / Q000172:deficiency*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011761:Pyrrolidonecarboxylic Acid / Q000032:analysis; D012016:Reference Values
chemical_list: D005981:Glutathione Synthase; D011761:Pyrrolidonecarboxylic Acid