Mania following acute decompensation in ornithine transcarbamylase deficiency.

Background
Ornithine transcarbamylase deficiency is the most common urea cycle disorder and presents an X-linked pattern of inheritance. Both males and females may be affected with variation in severity and age of onset. Psychiatric symptoms, including episodic psychosis, atypical depression, confusion, erratic behavior or delirium, are possible presentations of late-onset disease. Manic behaviors have previously been reported with hyperammonemia induced by valproic acid. Usually, psychiatric behaviors cease with normalization of ammonia levels.
Case report
We report a family with two males with confirmed late-onset OTC deficiency (and other adult males with unexplained lethal encephalopathy) due to a missense mutation in OTC (c.119G>A; p.R40H). One 29-year-old male individual, with no psychiatric history, presented hypomanic symptoms with a significant shift from his personality in the days following his first major episode of acute decompensation. Ammonia levels were measured as 245, 30, 11, 106, 20, 38 and 17 micromol/L on days 2, 5, 8, 9, 9, 9, and 10, respectively, following the acute crisis onset. Symptoms of vomiting, confusion, tremors and loss of consciousness stopped at day 5.
Hypomanic symptoms were noted from day 5 and were finally controlled with long-acting quetiapine ten days after normalization of serum ammonia levels (daily levels were normal from day 10 to day 21). CT scan of the brain was normal.
Conclusion
Illustrated by this case report, occurrence of mania secondary to a hyperammonic crisis may be the consequence of dysregulated neurotransmission balance in brain, which can persist after normalization of serum ammonia levels.