[Attempt at antenatal diagnosis of argininosuccinic aciduria].
Antenatal diagnosis in a woman previously delivered of a child with arginino-succinic aciduria, due to deficiency of arginino-succinase (EC 4.3.2.1.), showed the fetus to be unaffected. This was confirmed at birth.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000596:Amino Acids / Q000032:analysis / Q000097:blood / Q000652:urine; D000653:Amniotic Fluid / Q000032:analysis; D001125:Argininosuccinic Acid / Q000652:urine; D056807:Argininosuccinic Aciduria; D002956:Citrulline / Q000378:metabolism; D005260:Female; D006801:Humans; D008190:Lyases / Q000172:deficiency*; D011247:Pregnancy; D011296:Prenatal Diagnosis
D000596:Amino Acids; D001125:Argininosuccinic Acid; D002956:Citrulline; D008190:Lyases
Essai de diagnostic anté-natal de l'acidurie arginino-succinique