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)
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 Transcarbamylase Deficiency Disease
- Deficiency Disease, Ornithine Transcarbamylase
- Ornithine Transcarbamylase Deficiency
- Deficiencies, Ornithine Transcarbamylase
- Deficiency, Ornithine Transcarbamylase
- Ornithine Transcarbamylase Deficiencies
- OTC Deficiency
- Deficiencies, OTC
- Deficiency, OTC
- OTC Deficiencies
- Deficiency Disease, Ornithine Carbamoyltransferase
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 Harvard Catalyst Profiles by year, and whether "Ornithine Carbamoyltransferase Deficiency Disease" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1994 | 1 | 0 | 1 |
| 1996 | 0 | 1 | 1 |
| 1997 | 1 | 0 | 1 |
| 1999 | 1 | 0 | 1 |
| 2001 | 1 | 1 | 2 |
| 2007 | 0 | 1 | 1 |
| 2010 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2016 | 0 | 1 | 1 |
| 2017 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
Below are the most recent publications written about "Ornithine Carbamoyltransferase Deficiency Disease" by people in Profiles.
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Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification. J Inherit Metab Dis. 2019 11; 42(6):1064-1076.
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Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events. J Inherit Metab Dis. 2019 03; 42(2):243-253.
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The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism. Mol Genet Metab. 2018 11; 125(3):235-240.
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A Case of Severe Neonatal Hyperammonemia. Clin Chem. 2017 08; 63(8):1420-1422.
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Hyperammonemic Encephalopathy Associated With Fibrolamellar Hepatocellular Carcinoma: Case Report, Literature Review, and Proposed Treatment Algorithm. Oncologist. 2016 Apr; 21(4):514-20.
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A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice. Nat Biotechnol. 2016 Mar; 34(3):334-8.
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Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency. PLoS One. 2015; 10(6):e0129595.
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Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion. Gene. 2015 Feb 10; 556(2):249-53.
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The urea cycle disorders. Semin Neurol. 2014 Jul; 34(3):341-9.
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Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):136-41.