Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency
Definition
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.
Also known as OCT deficiency, ornithine carbamoyltransferase deficiency, ornithine carbamoyltransferase deficiency disease, ornithine transcarbamylase deficiency, OTC deficiency, OTCD — per MONDO