Urea Cycle Disorders, Inborn
"Urea Cycle Disorders, Inborn" 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.
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
| Descriptor ID |
D056806
|
| MeSH Number(s) |
C10.228.140.163.100.937 C16.320.565.100.940 C16.320.565.189.937 C18.452.132.100.937 C18.452.648.100.940 C18.452.648.189.937
|
| Concept/Terms |
Urea Cycle Disorders, Inborn- Urea Cycle Disorders, Inborn
- Urea Cycle Disorders
- Disorder, Urea Cycle
- Disorders, Urea Cycle
- Urea Cycle Disorder
- Inborn Urea Cycle Disorder
|
Below are MeSH descriptors whose meaning is more general than "Urea Cycle Disorders, Inborn".
- 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]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Urea Cycle Disorders, Inborn [C16.320.565.100.940]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Urea Cycle Disorders, Inborn [C16.320.565.189.937]
- 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]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Urea Cycle Disorders, Inborn [C18.452.648.100.940]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Urea Cycle Disorders, Inborn [C18.452.648.189.937]
Below are MeSH descriptors whose meaning is more specific than "Urea Cycle Disorders, Inborn".
This graph shows the total number of publications written about "Urea Cycle Disorders, Inborn" by people in this website by year, and whether "Urea Cycle Disorders, Inborn" was a major or minor topic of these publications.
To see the data from this visualization as text,
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 2 | 0 | 2 |
| 2011 | 0 | 1 | 1 |
| 2012 | 1 | 0 | 1 |
| 2013 | 2 | 0 | 2 |
| 2014 | 3 | 0 | 3 |
| 2015 | 3 | 0 | 3 |
| 2016 | 1 | 0 | 1 |
| 2017 | 1 | 1 | 2 |
| 2018 | 0 | 1 | 1 |
| 2019 | 3 | 0 | 3 |
| 2020 | 2 | 1 | 3 |
| 2021 | 2 | 0 | 2 |
| 2023 | 4 | 0 | 4 |
| 2024 | 2 | 0 | 2 |
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Below are the most recent publications written about "Urea Cycle Disorders, Inborn" 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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Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises. Pediatr Neurol. 2024 Oct; 159:48-55.
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Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders. Mol Genet Metab. 2024 Mar; 141(3):108112.
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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders. Genet Med. 2024 04; 26(4):101039.
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Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn. Mol Genet Metab. 2023 11; 140(3):107699.
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Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders. Mol Genet Metab. 2023 11; 140(3):107696.
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Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database. Mol Genet Metab. 2022 01; 135(1):35-41.
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Biomarkers for liver disease in urea cycle disorders. Mol Genet Metab. 2021 06; 133(2):148-156.
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Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders. Mol Genet Metab. 2020 12; 131(4):390-397.
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Long-term effects of medical management on growth and weight in individuals with urea cycle disorders. Sci Rep. 2020 07 20; 10(1):11948.