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Urea Cycle Disorders, Inborn MeSH Descriptor Data 2023


MeSH Heading
Urea Cycle Disorders, Inborn
Tree 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
Unique ID
D056806
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D056806
Scope Note
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.
Entry Term(s)
Inborn Urea Cycle Disorder
Urea Cycle Disorders
Previous Indexing
Urea/metabolism (1977-2009)
Public MeSH Note
2010
History Note
2010
Date Established
2010/01/01
Date of Entry
2009/07/06
Urea Cycle Disorders, Inborn Preferred
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