PT  - JOURNAL ARTICLE
AU  - Nicholas F Blair
AU  - Philip D Cremer
AU  - Michel C Tchan
TI  - Urea cycle disorders: a life-threatening yet treatable cause of metabolic encephalopathy in adults
AID  - 10.1136/practneurol-2014-000916
DP  - 2015 Feb 01
TA  - Practical Neurology
PG  - 45--48
VI  - 15
IP  - 1
4099  - http://pn.bmj.com/content/15/1/45.short
4100  - http://pn.bmj.com/content/15/1/45.full
SO  - Pract Neurol2015 Feb 01; 15
AB  - 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.