Ornithine Carbamoyltransferase Deficiency Disease

**Definition:** An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)

**Tree numbers:** - C10.228.140.163.100.937.750 - C16.320.322.828 - C16.320.565.100.940.750 - C16.320.565.189.937.750 - C18.452.132.100.937.500 - C18.452.648.100.940.500 - C18.452.648.189.937.500

**Synonyms:** - Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To - Ornithine Carbamoyltransferase Deficiency - OTC Deficiency - Deficiency Disease, Ornithine Carbamoyltransferase - Deficiency Disease, Ornithine Transcarbamylase - Ornithine Transcarbamylase Deficiency - Ornithine Transcarbamylase Deficiency Disease