Ornithine Carbamoyltransferase Deficiency Disease
"Ornithine Carbamoyltransferase Deficiency Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
| Descriptor ID |
D020163
|
| MeSH Number(s) |
C10.228.140.163.100.937.750 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
|
| Concept/Terms |
Ornithine Carbamoyltransferase Deficiency Disease- Ornithine Carbamoyltransferase Deficiency Disease
- 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
|
Below are MeSH descriptors whose meaning is more general than "Ornithine Carbamoyltransferase Deficiency Disease".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
- Ornithine Carbamoyltransferase Deficiency Disease [C10.228.140.163.100.937.750]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Genetic Diseases, X-Linked [C16.320.322]
- Ornithine Carbamoyltransferase Deficiency Disease [C16.320.322.828]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Urea Cycle Disorders, Inborn [C16.320.565.100.940]
- Ornithine Carbamoyltransferase Deficiency Disease [C16.320.565.100.940.750]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Urea Cycle Disorders, Inborn [C16.320.565.189.937]
- Ornithine Carbamoyltransferase Deficiency Disease [C16.320.565.189.937.750]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Urea Cycle Disorders, Inborn [C18.452.132.100.937]
- Ornithine Carbamoyltransferase Deficiency Disease [C18.452.132.100.937.500]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Urea Cycle Disorders, Inborn [C18.452.648.100.940]
- Ornithine Carbamoyltransferase Deficiency Disease [C18.452.648.100.940.500]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Urea Cycle Disorders, Inborn [C18.452.648.189.937]
- Ornithine Carbamoyltransferase Deficiency Disease [C18.452.648.189.937.500]
Below are MeSH descriptors whose meaning is more specific than "Ornithine Carbamoyltransferase Deficiency Disease".
This graph shows the total number of publications written about "Ornithine Carbamoyltransferase Deficiency Disease" by people in this website by year, and whether "Ornithine Carbamoyltransferase Deficiency Disease" was a major or minor topic of these publications.
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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 1 | 0 | 1 |
| 1998 | 1 | 1 | 2 |
| 2002 | 2 | 0 | 2 |
| 2003 | 1 | 0 | 1 |
| 2004 | 1 | 1 | 2 |
| 2006 | 2 | 1 | 3 |
| 2007 | 2 | 0 | 2 |
| 2008 | 1 | 1 | 2 |
| 2009 | 1 | 0 | 1 |
| 2010 | 1 | 0 | 1 |
| 2011 | 1 | 0 | 1 |
| 2013 | 2 | 0 | 2 |
| 2017 | 0 | 1 | 1 |
| 2018 | 1 | 1 | 2 |
| 2021 | 0 | 1 | 1 |
| 2022 | 1 | 0 | 1 |
| 2024 | 0 | 1 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Ornithine Carbamoyltransferase Deficiency Disease" by people in Profiles.
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Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders. Mol Genet Metab. 2024 Sep-Oct; 143(1-2):108566.
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Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency. Ann Clin Transl Neurol. 2022 11; 9(11):1715-1726.
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Bivalirudin for the prevention of hepatic artery thrombosis in pediatric liver transplantation. Pediatr Transplant. 2021 Nov; 25(7):e14068.
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Ex Vivo Enteroids Recapitulate In Vivo Citrulline Production in Mice. J Nutr. 2018 09 01; 148(9):1415-1420.
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Prenatal treatment of ornithine transcarbamylase deficiency. Mol Genet Metab. 2018 03; 123(3):297-300.
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Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels. Mol Genet Metab. 2017 11; 122(3):39-45.
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Vector sequences are not detected in tumor tissue from research subjects with ornithine transcarbamylase deficiency who previously received adenovirus gene transfer. Hum Gene Ther. 2013 Sep; 24(9):814-9.
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At the intersection of toxicology, psychiatry, and genetics: a diagnosis of ornithine transcarbamylase deficiency. Am J Emerg Med. 2013 Sep; 31(9):1420.e5-6.
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Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients. Am J Clin Nutr. 2011 Jun; 93(6):1248-54.
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Management of ornithine transcarbamylase deficiency in pregnancy. Am J Perinatol. 2010 Nov; 27(10):775-84.