RT Journal Article
SR Electronic
T1 Urea cycle disorders: a life-threatening yet treatable cause of metabolic encephalopathy in adults
JF Practical Neurology
JO Pract Neurol
FD BMJ Publishing Group Ltd
SP 45
OP 48
DO 10.1136/practneurol-2014-000916
VO 15
IS 1
A1 Nicholas F Blair
A1 Philip D Cremer
A1 Michel C Tchan
YR 2015
UL http://pn.bmj.com/content/15/1/45.abstract
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.