Ornithine Carbamoyltransferase Deficiency Disease

Synonyms

Deficiencies, OTC

Deficiencies, Ornithine Transcarbamylase

Deficiency Disease, Ornithine Carbamoyltransferase

Deficiency Disease, Ornithine Transcarbamylase

Deficiency, OTC

Deficiency, Ornithine Transcarbamylase

OTC Deficiencies

OTC Deficiency

Ornithine Carbamoyltransferase Deficiency

Ornithine Transcarbamylase Deficiencies

Ornithine Transcarbamylase Deficiency

Ornithine Transcarbamylase Deficiency Disease

Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To

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)