Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Urea cycle disorder or inherited hyperammonemia
Ornithine carbamoyltransferase deficiency
Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.
This condition has no sub-types.