[Prenatal diagnosis of enzymopathies of the urea cycle].
Seven defects of the urea cycle enzymes were obtained in 48 hours at-risk pregnancies. A new method for measuring ornithine transcarbamylase and carbamylphosphate synthetase-I was used for prenatal diagnosis of the related enzymopathies in chorionic villi.
Chadefaux
B
B
Laboratoire de Biochimie Génétique, Hôpital Necker Enfants Malades, Paris.
Rabier
D
D
Kamoun
P
P
D001124:Argininosuccinate Synthase / Q000172:deficiency*; D056807:Argininosuccinic Aciduria; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D005260:Female; D006801:Humans; D020162:Hyperargininemia; D008025:Ligases / Q000172:deficiency*; D008190:Lyases / Q000172:deficiency*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014508:Urea / Q000378:metabolism*
D014508:Urea; D008190:Lyases; D008025:Ligases; D002222:Carbamoyl-Phosphate Synthase (Ammonia); D001124:Argininosuccinate Synthase
Diagnostic prénatal des enzymopathies du cycle de l'urée.