Urea cycle disorders: a life-threatening yet treatable cause of metabolic encephalopathy in adults

Abstract

Urea cycle disorders are inborn errors of metabolism that, in rare cases, can present for the first time in adulthood. We report a perplexing presentation in a woman 4 days postpartum of bizarre and out-of-character behaviour interspersed with periods of complete normality. Without any focal neurological signs or abnormality on initial investigations, the diagnosis became clear with the finding of a significantly elevated plasma ammonia level, just as she began to deteriorate rapidly. She improved following intravenous dextrose and lipid emulsion, together with sodium benzoate, arginine and a protein-restricted diet. She remains well 12 months later with no permanent sequelae. Whilst this is a rare presentation of an uncommon disease, it is a treatable disorder and its early diagnosis can prevent a fatal outcome.

Keywords: Encephalopathies, Metabolic; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Disease; Postpartum Period; Urea Cycle Disorders, Inborn.