 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
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| 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
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| 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
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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 |
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| 2010 | 1 | 0 | 1 | | 2011 | 1 | 0 | 1 | | 2012 | 2 | 0 | 2 | | 2013 | 3 | 0 | 3 | | 2014 | 2 | 0 | 2 | | 2015 | 2 | 0 | 2 | | 2017 | 1 | 1 | 2 | | 2018 | 1 | 0 | 1 | | 2019 | 4 | 0 | 4 | | 2020 | 1 | 0 | 1 | | 2023 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Urea Cycle Disorders, Inborn" by people in Profiles.
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Murali CN, Barber JR, McCarter R, Zhang A, Gallant N, Simpson K, Dorrani N, Wilkening GN, Hays RD, Lichter-Konecki U, Burrage LC, Nagamani SCS. 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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Longo N, Diaz GA, Lichter-Konecki U, Schulze A, Inbar-Feigenberg M, Conway RL, Bannick AA, McCandless SE, Zori R, Hainline B, Ah Mew N, Canavan C, Vescio T, Kok T, Porter MH, Berry SA. Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2?months of age with urea cycle disorders. Mol Genet Metab. 2021 01; 132(1):19-26.
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Berry SA, Coughlin CR, McCandless S, McCarter R, Seminara J, Yudkoff M, LeMons C. Developing interactions with industry in rare diseases: lessons learned and continuing challenges. Genet Med. 2020 01; 22(1):219-226.
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Diaz GA, Schulze A, Longo N, Rhead W, Feigenbaum A, Wong D, Merritt JL, Berquist W, Gallagher RC, Bartholomew D, McCandless SE, Smith WE, Harding CO, Zori R, Lichter-Konecki U, Vockley J, Canavan C, Vescio T, Holt RJ, Berry SA. Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. Mol Genet Metab. 2019 08; 127(4):336-345.
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Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, K?lker S. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Ann Neurol. 2019 07; 86(1):116-128.
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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.
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Berry SA, Vockley J, Vinks AA, Dong M, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Perdok R, Robinson B, Holt RJ, Longo N. Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2?months to 2?years of age with urea cycle disorders. Mol Genet Metab. 2018 11; 125(3):251-257.
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Berry SA, Longo N, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Robinson B, Vockley J. Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years. Mol Genet Metab. 2017 11; 122(3):46-53.
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Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grunewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. J Inherit Metab Dis. 2017 05; 40(3):423-431.
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Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley J, Longo N, Nagamani SC, Berquist W, Gallagher RC, Harding CO, McCandless SE, Smith W, Schulze A, Marino M, Rowell R, Coakley DF, Mokhtarani M, Scharschmidt BF. Glutamine and hyperammonemic crises in patients with urea cycle disorders. Mol Genet Metab. 2016 Jan; 117(1):27-32.
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