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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; 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
Networked: 204 relevant articles (10 outcomes, 18 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Citrullinemia
2. Inborn Urea Cycle Disorders
3. Phenylketonurias (Phenylketonuria)
4. Coma (Comas)
5. Drug Resistant Epilepsy

Experts

1. Häberle, Johannes: 12 articles (01/2021 - 10/2002)
2. Lee, Brendan: 10 articles (01/2020 - 10/2004)
3. Nuoffer, Jean-Marc: 6 articles (11/2019 - 01/2012)
4. Erez, Ayelet: 6 articles (11/2012 - 09/2009)
5. Nagamani, Sandesh C S: 5 articles (01/2019 - 11/2011)
6. Dionisi-Vici, Carlo: 4 articles (01/2022 - 07/2012)
7. Matsumoto, Shirou: 4 articles (06/2021 - 11/2015)
8. Brunetti-Pierri, Nicola: 4 articles (01/2021 - 10/2004)
9. Burgard, Peter: 4 articles (01/2019 - 11/2015)
10. Summar, Marshall L: 4 articles (01/2019 - 08/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Argininosuccinic Aciduria:
1. Arginine (L-Arginine)FDA Link
2. Ligases (Synthetase)IBA
3. Carbamyl Phosphate (Carbamoyl Phosphate)IBA
4. Sodium CitrateFDA LinkGeneric
5. Argininosuccinate LyaseIBA
6. Argininosuccinic AcidIBA
7. Proteins (Proteins, Gene)FDA Link
8. Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA
9. Messenger RNA (mRNA)IBA
10. NitrogenIBA

Therapies and Procedures

1. Therapeutics
2. Ketogenic Diet
3. Total Parenteral Nutrition
4. Liver Transplantation
5. Transplantation