Ornithine Carbamoyltransferase Deficiency Disease (definition)

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Ornithine Carbamoyltransferase Deficiency Disease

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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)

See Also Ornithine Carbamoyltransferase

Other names Ornithine Transcarbamylase Deficiencies; OTC Deficiencies; Deficiency, Ornithine Transcarbamylase; Deficiency, OTC; Deficiencies, Ornithine Transcarbamylase; Deficiencies, OTC; Deficiency Disease, Ornithine Transcarbamylase; Deficiency Disease, Ornithine Carbamoyltransferase; Ornithine Transcarbamylase Deficiency Disease; Ornithine Transcarbamylase Deficiency; OTC Deficiency

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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