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Argininosuccinic Aciduria MeSH Descriptor Data 2023


MeSH Heading
Argininosuccinic Aciduria
Tree Number(s)
C10.228.140.163.100.937.124
C16.320.565.100.940.124
C16.320.565.189.937.124
C18.452.132.100.937.124
C18.452.648.100.940.124
C18.452.648.189.937.124
Unique ID
D056807
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D056807
Scope Note
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.
Entry Term(s)
ASA Deficiency
ASL Deficiency
Arginino Succinase Deficiency
Argininosuccinase Deficiency
Argininosuccinate Acidemia
Argininosuccinate Lyase Deficiency
Argininosuccinic Acid Lyase Deficiency
Argininosuccinic Acidemia
Argininosuccinicaciduria
Argininosuccinyl-Coa Lyase Deficiency
Arginosuccinase Deficiency
Asauria
Inborn Error of Urea Synthesis, Arginino Succinic Type
Urea Cycle Disorder, Arginino Succinase Type
Previous Indexing
Amino Acid Metabolism, Inborn Errors (1664-2009)
See Also
Argininosuccinate Lyase
Public MeSH Note
2010
History Note
2010
Date Established
2010/01/01
Date of Entry
2009/07/06
Revision Date
2013/07/08
Argininosuccinic Aciduria Preferred
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