ornithine carbamoyltransferase deficiency

Rare Disease

MONDO:0010703

Also Known As

OCT deficiencyOTC deficiencyOTCDdeficiency of citrulline phosphorylaseornithine carbamoyltransferase deficiencyornithine carbamoyltransferase deficiency diseaseornithine transcarbamylase deficiencyornithine transcarbamylase deficiency, hyperammonemia due tovalproate sensitivity

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.