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Disease Argininosuccinic Aciduria

Name Argininosuccinic Aciduria
Synonyms Acidemia, Argininosuccinate | Acidemias, Argininosuccinate | Aciduria, Argininosuccinic | Acidurias, Argininosuccinic | Arginino Succinase Deficiencies | Argininosuccinase Deficiency | Arginino Succinase Deficiency | Argininosuccinate Acidemia | Argininosuccinate Acidemias | Argininosuccinate Lyase Deficiencies | Argininosuccinate Lyase Deficiency | Argininosuccinic Acidemia | Argininosuccinic Acid Lyase Deficiency | Argininosuccinicaciduria | Argininosuccinicacidurias | Argininosuccinic Acidurias | Argininosuccinyl-Coa Lyase Deficiency | Arginosuccinase Deficiency | ASA Deficiencies | ASA Deficiency | Asauria | ASL Deficiencies | ASL Deficiency | Deficiencies, Arginino Succinase | Deficiencies, Argininosuccinate Lyase | Deficiencies, ASA | Deficiencies, ASL | Deficiency, Arginino Succinase | Deficiency, Argininosuccinate Lyase | Deficiency, ASA | Deficiency, ASL | Inborn Error of Urea Synthesis, Arginino Succinic Type | Urea Cycle Disorder, Arginino Succinase Type
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D056807
OMIM® ID 207900
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Argininosuccinic Aciduria Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Argininosuccinic Aciduria Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Argininosuccinic Aciduria Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Argininosuccinic Aciduria Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Argininosuccinic Aciduria Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Argininosuccinic Aciduria Has associated chemicals Has associated genes

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