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.
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.
Descriptor ID |
D056807
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MeSH 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
|
Concept/Terms |
Argininosuccinic Aciduria- Argininosuccinic Aciduria
- Aciduria, Argininosuccinic
- Acidurias, Argininosuccinic
- Argininosuccinic Acidurias
- Argininosuccinase Deficiency
- Argininosuccinate Acidemia
- Acidemia, Argininosuccinate
- Acidemias, Argininosuccinate
- Argininosuccinate Acidemias
- Argininosuccinate Lyase Deficiency
- Argininosuccinate Lyase Deficiencies
- Deficiencies, Argininosuccinate Lyase
- Deficiency, Argininosuccinate Lyase
- Argininosuccinic Acid Lyase Deficiency
- 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
- Urea Cycle Disorder, Arginino Succinase Type
- Argininosuccinic Acidemia
- Argininosuccinyl-Coa Lyase Deficiency
- Arginosuccinase Deficiency
- Asauria
- Arginino Succinase Deficiency
- Arginino Succinase Deficiencies
- Deficiencies, Arginino Succinase
- Deficiency, Arginino Succinase
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Below are MeSH descriptors whose meaning is more general than "Argininosuccinic Aciduria".
- 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]
- Argininosuccinic Aciduria [C10.228.140.163.100.937.124]
- 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]
- Argininosuccinic Aciduria [C16.320.565.100.940.124]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Urea Cycle Disorders, Inborn [C16.320.565.189.937]
- Argininosuccinic Aciduria [C16.320.565.189.937.124]
- 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]
- Argininosuccinic Aciduria [C18.452.132.100.937.124]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Urea Cycle Disorders, Inborn [C18.452.648.100.940]
- Argininosuccinic Aciduria [C18.452.648.100.940.124]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Urea Cycle Disorders, Inborn [C18.452.648.189.937]
- Argininosuccinic Aciduria [C18.452.648.189.937.124]
Below are MeSH descriptors whose meaning is more specific than "Argininosuccinic Aciduria".
This graph shows the total number of publications written about "Argininosuccinic Aciduria" by people in this website by year, and whether "Argininosuccinic Aciduria" was a major or minor topic of these publications.
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Below are the most recent publications written about "Argininosuccinic Aciduria" by people in Profiles.
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A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders. Pediatrics. 1982 Oct; 70(4):526-31.
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Newborn screening for urea cycle disorders. Adv Exp Med Biol. 1982; 153:9-18.