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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)
Also Known As:
Deficiency Disease, Ornithine Carbamoyltransferase; Deficiency Disease, Ornithine Transcarbamylase; Ornithine Carbamoyltransferase Deficiency; Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To; Deficiencies, OTC; Deficiencies, Ornithine Transcarbamylase; Deficiency, OTC; Deficiency, Ornithine Transcarbamylase; OTC Deficiencies; Ornithine Transcarbamylase Deficiencies; OTC Deficiency; Ornithine Transcarbamylase Deficiency; Ornithine Transcarbamylase Deficiency Disease
Networked: 614 relevant articles (21 outcomes, 45 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hyperammonemia
2. Inborn Urea Cycle Disorders
3. Methylmalonic acidemia
4. Crigler-Najjar Syndrome
5. Brain Injuries (Brain Injury)

Experts

1. Häberle, Johannes: 14 articles (01/2022 - 06/2003)
2. Matsumoto, Shirou: 9 articles (11/2021 - 11/2015)
3. Batshaw, Mark L: 9 articles (01/2020 - 01/2002)
4. Tuchman, Mendel: 9 articles (12/2018 - 02/2002)
5. Wilson, James M: 8 articles (03/2022 - 01/2002)
6. Nakamura, Kimitoshi: 8 articles (11/2021 - 07/2016)
7. Gropman, Andrea L: 8 articles (03/2021 - 05/2008)
8. Lee, Brendan: 8 articles (09/2013 - 10/2003)
9. Kido, Jun: 7 articles (11/2021 - 07/2016)
10. Kasahara, Mureo: 6 articles (11/2021 - 11/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Ornithine Carbamoyltransferase Deficiency Disease:
1. Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA
2. Proteins (Proteins, Gene)FDA Link
3. Complementary DNA (cDNA)IBA
4. AmmoniaIBA
5. Ligases (Synthetase)IBA
6. Urea (Carbamide)FDA LinkGeneric
7. DNA (Deoxyribonucleic Acid)IBA
8. Arginine (L-Arginine)FDA Link
9. N-carbamylglutamateIBA
10. Orotic AcidIBA

Therapies and Procedures

1. Liver Transplantation
2. Transplantation
3. Ligation
4. Therapeutics
5. Anesthesia