 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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2014 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2019 | 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.
-
Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless SE, Seminara J, Summar M, Hoffmann GF, K?lker S, Burgard P. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases. J Inherit Metab Dis. 2019 01; 42(1):93-106.
-
Beard L, Wymore E, Fenton L, Coughlin CR, Weisfeld-Adams JD. Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt. J Inherit Metab Dis. 2017 01; 40(1):159-160.
-
Gallagher RC, Lam C, Wong D, Cederbaum S, Sokol RJ. Significant hepatic involvement in patients with ornithine transcarbamylase deficiency. J Pediatr. 2014 Apr; 164(4):720-725.e6.
-
Aronson PL, Mistry RD. Ornithine transcarbamylase deficiency presenting as hepatitis. Pediatr Emerg Care. 2011 Jun; 27(6):527-9.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|