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| Argininosuccinic Aciduria | Legal notice |
Other terms
Aciduria, Argininosuccinic,Acidurias, Argininosuccinic,Argininosuccinic Acidurias,Argininosuccinate Acidemia,Acidemia, Argininosuccinate,Acidemias, Argininosuccinate,Argininosuccinate Acidemias,Argininosuccinate Lyase Deficiency,Argininosuccinate Lyase Deficiencies,Deficiencies, Argininosuccinate Lyase,Deficiency, Argininosuccinate Lyase,Urea Cycle Disorder, Arginino Succinase Type,Argininosuccinicaciduria,Argininosuccinicacidurias,ASA Deficiency,ASA Deficiencies,Deficiencies, ASA,Deficiency, ASA,ASL Deficiency,ASL Deficiencies,Deficiencies, ASL,Deficiency, ASL,Inborn Error of Urea Synthesis, Arginino Succinic Type,Arginino Succinase Deficiency,Arginino Succinase Deficiencies,Deficiencies, Arginino Succinase,Deficiency, Arginino Succinase,Argininosuccinic Acid Lyase Deficiency
Description
Argininosuccinic Aciduria: 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.
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- Urea Cycle Disorders, Inborn
- Urea Cycle Disorders, Inborn
- Urea Cycle Disorders, Inborn
- Urea Cycle Disorders, Inborn
- Urea Cycle Disorders, Inborn
Legal notice
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The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
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