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Ornithine Carbamoyltransferase Deficiency Disease Summary

Description: 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)

Also Known As: Deficiency Disease, Ornithine Carbamoyltransferase; Deficiency Disease, Ornithine Transcarbamylase; Deficiencies, OTC; Deficiencies, Ornithine Transcarbamylase; Deficiency, OTC Show All >>

Networked: 427 relevant articles (14 outcomes, 30 trials/studies) for this Disease

Key Drugs and Agents for Ornithine Carbamoyltransferase Deficiency Disease

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Ornithine Carbamoyltransferase (Ornithine Transcarbamylase) : 5 outcomes 13 studies in 219 results : IBA
  2. Complementary DNA (cDNA) : 2 outcomes in 5 results : IBA
  3. Urea (Carbamide) : 1 outcome 1 study in 86 results : FDA 6 Generic
  4. Arginine (L-Arginine) : 1 outcome 1 study in 13 results : FDA 19
  5. Messenger RNA (mRNA) : 1 outcome in 6 results : IBA
  6. N-Methylaspartate (NMDA) : 1 outcome in 3 results : IBA
  7. Factor VII (Proconvertin) : 1 outcome in 1 result : IBA
  8. progressive familial intrahepatic 1 Cholestasis : 1 outcome in 1 result : IBA
  9. Ammonia : 6 studies in 28 results : IBA
  10. Branched-Chain Amino Acids : 2 studies in 4 results : IBA
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Diseases Related to Ornithine Carbamoyltransferase Deficiency Disease

  1. Hyperammonemia
  2. Crigler-Najjar Syndrome (Syndrome, Crigler-Najjar)
  3. Brain Injuries (Brain Injury)
  4. Inborn Urea Cycle Disorders
  5. Citrullinemia
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Key Therapies for Ornithine Carbamoyltransferase Deficiency Disease

Efficacy Chart >>
  1. Liver Transplantation : 5 outcomes 2 studies in 30 results
  2. Transplantation (Transplant Recipients) : 1 outcome 1 study in 8 results
  3. Transplants (Transplant) : 1 outcome in 10 results
  4. Homologous Transplantation (Allograft) : 1 outcome in 2 results
  5. Ligation : 1 outcome in 1 result
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