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Ornithine Carbamoyltransferase Deficiency Disease

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)

Year introduced: 2000

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Tree Number(s): C10., 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

MeSH Unique ID: D020163

Entry Terms:

  • Ornithine Carbamoyltransferase Deficiency
  • Ornithine Transcarbamylase Deficiency Disease
  • Deficiency Disease, Ornithine Carbamoyltransferase
  • Deficiency Disease, Ornithine Transcarbamylase
  • Ornithine Transcarbamylase Deficiency
  • Deficiencies, Ornithine Transcarbamylase
  • Deficiency, Ornithine Transcarbamylase
  • Ornithine Transcarbamylase Deficiencies
  • Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
  • OTC Deficiency
  • Deficiencies, OTC
  • Deficiency, OTC
  • OTC Deficiencies

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