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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; Argininosuccinate Acidemia; Argininosuccinate Lyase Deficiency; Argininosuccinic Acid Lyase Deficiency; Argininosuccinicaciduria; 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
Networked: 122 relevant articles (5 outcomes, 11 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Citrullinemia
2. Epilepsy (Aura)
3. Coma (Comas)
4. Maple Syrup Urine Disease
5. Phenylketonurias (Phenylketonuria)

Experts

1. Häberle, Johannes: 8 articles (11/2015 - 10/2002)
2. Lee, Brendan: 8 articles (06/2013 - 10/2004)
3. Erez, Ayelet: 5 articles (11/2012 - 09/2009)
4. Nuoffer, Jean-Marc: 4 articles (09/2015 - 01/2012)
5. Summar, Marshall L: 3 articles (11/2015 - 08/2008)
6. Rüfenacht, Véronique: 3 articles (09/2015 - 11/2013)
7. Hu, Liyan: 3 articles (09/2015 - 01/2012)
8. Eggimann, Sandra: 3 articles (09/2015 - 01/2012)
9. Pandey, Amit V: 3 articles (09/2015 - 11/2013)
10. Marini, Juan C: 3 articles (11/2012 - 12/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Argininosuccinic Aciduria:
1. sodium citrateFDA LinkGeneric
2. Arginine (L-Arginine)FDA Link
3. Argininosuccinic AcidIBA
4. LigasesIBA
5. Carbamyl Phosphate (Carbamoyl Phosphate)IBA
6. NitrogenIBA
7. Staphylococcal Protein A (A, Protein)IBA
8. Ascorbic Acid (Vitamin C)FDA LinkGeneric
9. Cytochrome P-450 Enzyme System (Cytochrome P450)IBA
10. Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA

Therapies and Procedures

1. Ketogenic Diet
2. Total Parenteral Nutrition
3. Liver Transplantation
4. Transplants (Transplant)
5. Transplantation (Transplant Recipients)