Human genes for ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency [DOID:9271]
Ornithine transcarbamylase deficiency (OTCD), a common urea cycle disorder, is a rare metabolic disorder, occurring in one out of every 80,000 births. OTCD is a genetic disorder resulting in a mutated and ineffective form of the enzyme ornithine transcarbamylase.
Synonyms: ornithine carbamoyltransferase deficiency, DOID:9271, deficiency of citrulline phosphorylase, ornithine transcarbamylase deficiency