Argininosuccinic aciduria--an underdiagnosed cause of neonatal death?
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.
White
I H
IH
Department of Clinical Biochemistry, University of Aberdeen.
Rose
S J
SJ
Lloyd
D J
DJ
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*
D001125:Argininosuccinic Acid; D001120:Arginine