DISEASES

Disease-gene associations mined from literature

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