title: [Argininosuccinic aciduria. Comparative studies and detection of carriers in 3 affected families].
abstract: Three patients with argininosuccinic aciduria are described. One of them is a neonatal form, with typical acute course and severe hyperammonemia who died on the sixth day of life. Postmortem analysis showed a marked plasmatic accumulation of argininosuccinic acid. Later on, red blood cell ASA-lyase levels demonstrated the heterozygosity of her parents and sisters. The two other patients are late onset forms and were diagnosed after detection of ASA and its anhydrides in plasma and urine. Levels of these metabolites did not correlate with levels of residual ASA-lyase in erythrocytes. Treatment with a hypoproteic diet supplemented with arginine has improved their clinical state. Carriers have been detected in both families. Importance of rapid diagnosis and treatment of hyperammonemic patients in order to prevent neurologic damage is emphasised.
authors.affiliation: Instituto de Bioquímica Clínica de la Diputación de Barcelona.
authors.forename: P
authors.initials: P
authors.lastname: Briones Godino
authors.forename: M
authors.initials: M
authors.lastname: Rodes Monegal
authors.forename: M A
authors.initials: MA
authors.lastname: Vilaseca Busca
authors.forename: A
authors.initials: A
authors.lastname: Maya Victoria
authors.forename: I
authors.initials: I
authors.lastname: Lizárraga Vidaurreta
authors.forename: P
authors.initials: P
authors.lastname: Barbero Aguirre
authors.forename: I
authors.initials: I
authors.lastname: Pascual Castroviejo
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000178:diet therapy / Q000235:genetics / Q000652:urine*; D001120:Arginine / Q000031:analogs & derivatives*; D001125:Argininosuccinic Acid / Q000097:blood / Q000378:metabolism* / Q000652:urine; D002675:Child, Preschool; D004912:Erythrocytes / Q000032:analysis; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male
chemical_list: D001125:Argininosuccinic Acid; D001120:Arginine
vernacular_title: Aciduria argininsuccínica. Estudios comparativos y detección de portadores en tres familias afectas.