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.
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 Harvard Catalyst Profiles by year, and whether "Urea Cycle Disorders, Inborn" 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 |
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2010 | 1 | 1 | 2 |
2012 | 1 | 0 | 1 |
2016 | 2 | 0 | 2 |
2018 | 1 | 0 | 1 |
2019 | 2 | 0 | 2 |
2020 | 2 | 1 | 3 |
2021 | 1 | 0 | 1 |
2023 | 0 | 1 | 1 |
Below are the most recent publications written about "Urea Cycle Disorders, Inborn" by people in Profiles.
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MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype. Am J Med Genet A. 2023 06; 191(6):1492-1501.
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Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism. Pediatr Emerg Care. 2021 Dec 01; 37(12):e1154-e1159.
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Review and Consensus on Pharmacogenomic Testing in Psychiatry. Pharmacopsychiatry. 2021 Jan; 54(1):5-17.
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A retrospective study of adult patients with noncirrhotic hyperammonemia. J Inherit Metab Dis. 2020 11; 43(6):1165-1172.
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Glucose-dependent partitioning of arginine to the urea cycle protects ß-cells from inflammation. Nat Metab. 2020 05; 2(5):432-446.
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Neuropsychological attributes of urea cycle disorders: A systematic review of the literature. J Inherit Metab Dis. 2019 11; 42(6):1176-1191.
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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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Acute Illness Protocol for Urea Cycle Disorders. Pediatr Emerg Care. 2018 Jun; 34(6):e115-e119.
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Milder Form of Urea Cycle Defect Revisited: Report and Review of Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria (HHH) Syndrome Diagnosed in a Teenage Girl Presenting with Recurrent Encephalopathy. Ann Acad Med Singap. 2016 Dec; 45(12):563-566.
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A Case of Increased C5-OH Acylcarnitine. Clin Chem. 2016 09; 62(9):1278-9.