Prenatal diagnosis of glutathione synthase deficiency.
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.
Manning
N J
NJ
Sheffield Children's Hospital, Western Bank, UK.
Davies
N P
NP
Olpin
S E
SE
Carpenter
K H
KH
Smith
M F
MF
Pollitt
R J
RJ
Duncan
S L
SL
Larsson
A
A
Carlsson
B
B
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
D005981:Glutathione Synthase; D011761:Pyrrolidonecarboxylic Acid