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Argininosuccinic Aciduria

"Argininosuccinic Aciduria" 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.

MeSH information
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Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.


publications
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This graph shows the total number of publications written about "Argininosuccinic Aciduria" by people in Harvard Catalyst Profiles by year, and whether "Argininosuccinic Aciduria" was a major or minor topic of these publication.
Bar chart showing 4 publications over 4 distinct years, with a maximum of 1 publications in 1996 and 2009 and 2011 and 2018
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.