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.

Also Known As:

ASA Deficiency; ASL 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; ASA Deficiencies; ASL Deficiencies; Acidemia, Argininosuccinate; Acidemias, Argininosuccinate; Aciduria, Argininosuccinic; Acidurias, Argininosuccinic; Arginino Succinase Deficiencies; Argininosuccinate Acidemias; Argininosuccinate Lyase Deficiencies; Argininosuccinic Acidurias; Argininosuccinicacidurias; Deficiencies, ASA; Deficiencies, ASL; Deficiencies, Arginino Succinase; Deficiencies, Argininosuccinate Lyase; Deficiency, ASA; Deficiency, ASL; Deficiency, Arginino Succinase; Deficiency, Argininosuccinate Lyase; Arginino Succinase Deficiency

Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Inborn Urea Cycle Disorders: 583
        Argininosuccinic Aciduria: 213
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 583
        Argininosuccinic Aciduria: 213
    - Inborn Errors Amino Acid Metabolism: 1
      - Inborn Urea Cycle Disorders: 583
        Argininosuccinic Aciduria: 213
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 583
        Argininosuccinic Aciduria: 213
    - Inborn Errors Amino Acid Metabolism: 1
      - Inborn Urea Cycle Disorders: 583
        Argininosuccinic Aciduria: 213
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 583
        Argininosuccinic Aciduria: 213

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Disease

Drug/Important Bio-Agent (IBA)