title: Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.
abstract: Prenatal testing of 12 pregnancies at risk for argininosuccinic aciduria due to argininosuccinate lyase (ASAL) deficiency and three pregnancies at risk for citrullinaemia due to argininosuccinate synthatase (ASAS) deficiency was performed by metabolite detection in amniotic fluid and measurement of enzyme activity in uncultured and cultured chorionic tissue and in cultured amniocytes. From our data and those of previous studies, amniotic fluid argininosuccinate measurement alone is clearly a reliable and rapid diagnostic test for both severe and mild ASAL deficiency if maternal ASAL deficiency can be excluded. For prenatal diagnosis of ASAS deficiency, however, both measurement of the amniotic fluid citrulline level and enzyme assay should be employed.
authors.affiliation: Massachusetts General Hospital, Neurology Service, Boston 02129, USA.
authors.forename: R
authors.initials: R
authors.lastname: Mandell
authors.forename: S
authors.initials: S
authors.lastname: Packman
authors.forename: R
authors.initials: R
authors.lastname: Laframboise
authors.forename: M S
authors.initials: MS
authors.lastname: Golbus
authors.forename: K
authors.initials: K
authors.lastname: Schmidt
authors.forename: L
authors.initials: L
authors.lastname: Workman
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: V E
authors.initials: VE
authors.lastname: Shih
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry* / Q000166:cytology / Q000201:enzymology; D001123:Argininosuccinate Lyase / Q000378:metabolism; D001124:Argininosuccinate Synthase / Q000172:deficiency* / Q000378:metabolism; D001125:Argininosuccinic Acid / Q000032:analysis* / Q000737:chemistry; D056807:Argininosuccinic Aciduria; D002250:Carbon Radioisotopes; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000737:chemistry / Q000201:enzymology; D015193:Chorionic Villi Sampling; D002956:Citrulline / Q000032:analysis* / Q000097:blood; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000201:enzymology; D005347:Fibroblasts / Q000737:chemistry / Q000201:enzymology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D000608:Renal Aminoacidurias / Q000175:diagnosis* / Q000201:enzymology; D014316:Tritium
chemical_list: D002250:Carbon Radioisotopes; D014316:Tritium; D001125:Argininosuccinic Acid; D002956:Citrulline; D001123:Argininosuccinate Lyase; D001124:Argininosuccinate Synthase