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,
click here.
| 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 |
| 2025 | 1 | 0 | 1 |
| 2026 | 2 | 0 | 2 |
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click here.
Below are the most recent publications written about "Urea Cycle Disorders, Inborn" by people in Profiles.
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Prevalence of fibrosis in hepatic explants and biopsies from individuals with urea cycle disorders. Mol Genet Metab. 2025 Aug; 145(4):109175.
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Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Ann Neurol. 2019 07; 86(1):116-128.
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Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986.
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Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet. 2018 08 02; 103(2):276-287.
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A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. Genet Med. 2018 07; 20(7):708-716.
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Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. J Inherit Metab Dis. 2016 07; 39(4):573-84.
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Glutamine and hyperammonemic crises in patients with urea cycle disorders. Mol Genet Metab. 2016 Jan; 117(1):27-32.
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Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genet Med. 2015 Jul; 17(7):561-8.
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Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):131-5.
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Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes. Mol Genet Metab. 2014 May; 112(1):17-24.