title: Argininosuccinic aciduria--an underdiagnosed cause of neonatal death?
abstract: We describe a case of neonatal argininosuccinic aciduria, a condition we suggest is underdiagnosed. Although the clinical presentation can be of overwhelming septicaemia, certain routine biochemical investigations are indicative of this inborn error of urea cycle metabolism.
authors.affiliation: Department of Clinical Biochemistry, University of Aberdeen.
authors.forename: I H
authors.initials: IH
authors.lastname: White
authors.forename: S J
authors.initials: SJ
authors.lastname: Rose
authors.forename: D J
authors.initials: DJ
authors.lastname: Lloyd
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D001120:Arginine / Q000031:analogs & derivatives*; D001125:Argininosuccinic Acid / Q000652:urine*; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D018805:Sepsis / Q000175:diagnosis*
chemical_list: D001125:Argininosuccinic Acid; D001120:Arginine