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.
MONDO:0800153
urea cycle disorder or inherited hyperammonemia
is_a
OCT deficiency
exact
OTC deficiency
exact
OTCD
exact
ornithine carbamoyltransferase deficiency
exact
ornithine carbamoyltransferase deficiency disease
exact
ornithine transcarbamylase deficiency
exact
SPAC4G9.10