A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
Also Known As:
Argininosuccinic Acid Synthase Deficiency Disease; Argininosuccinic Acid Synthetase Deficiency Disease; Argininosuccinic Acid Synthetase Deficiency Disease, Partial; Argininosuccinic Acid Synthetase Deficiency, Complete; Citrullinemia, Classical; Citrullinemia, Late-Onset; Citrullinemia, Neonatal; Citrullinuria; Complete Argininosuccinic Acid Synthetase Deficiency Disease; Deficiency, Argininosuccinic Acid Synthetase, Complete; Deficiency, Argininosuccinic Acid Synthetase, Partial; Partial Argininosuccinic Acid Synthetase Deficiency Disease; ASS Deficiencies; Argininosuccinate Synthetase Deficiencies; Citrullinemia, Late Onset; Citrullinemias; Citrullinemias, Classic; Citrullinemias, Classical; Citrullinemias, Late-Onset; Citrullinemias, Neonatal; Citrullinurias; Classic Citrullinemia; Classic Citrullinemias; Classical Citrullinemia; Classical Citrullinemias; Deficiencies, ASS; Deficiencies, Argininosuccinate Synthetase; Deficiency, ASS; Deficiency, Argininosuccinate Synthetase; Late-Onset Citrullinemia; Late-Onset Citrullinemias; Neonatal Citrullinemia; Neonatal Citrullinemias; Type 1, Citrullinemia; ASS Deficiency; Argininosuccinate Synthase Deficiency Disease; Argininosuccinate Synthetase Deficiency; Argininosuccinic Acid Synthetase Deficiency; Citrullinemia 1; Citrullinemia Type 1; Citrullinemia, Classic; Deficiency Disease, Argininosuccinate Synthase; Deficiency Disease, Argininosuccinic Acid Synthase
Networked: 265 relevant articles (10 outcomes, 12 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Argininosuccinic Aciduria
2. Coma (Comas)
3. Phenylketonurias (Phenylketonuria)
4. Chronic Kidney Failure (Chronic Renal Failure)
5. Hyperammonemia


1. Kobayashi, Keiko: 42 articles (11/2012 - 01/2002)
2. Saheki, Takeyori: 37 articles (08/2013 - 01/2002)
3. Iijima, Mikio: 13 articles (11/2008 - 04/2002)
4. Yazaki, Masahide: 12 articles (03/2015 - 04/2004)
5. Kobayashi, K: 12 articles (06/2009 - 12/2000)
6. Ikeda, Shu-ichi: 10 articles (08/2013 - 10/2003)
7. Saheki, T: 10 articles (12/2001 - 12/2000)
8. Ushikai, Miharu: 7 articles (11/2012 - 04/2004)
9. Li, Meng Xian: 7 articles (08/2007 - 04/2002)
10. Ohura, Toshihiro: 6 articles (05/2013 - 05/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Citrullinemia:
1. Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA
2. Urea (Carbamide)FDA LinkGeneric
3. LigasesIBA
4. Amino AcidsFDA Link
5. Argininosuccinate LyaseIBA
04/01/1999 - "We also used MS/MS analysis of urine or blood either for confirmation of initial positive results or for follow-up of treatment, such as in glutaric acidemia, citrullinemia, argininosuccinase deficiency, and biopterin-dependent phenylketonuria."
03/01/2010 - "Argininosuccinate synthetase deficiency was the most frequent disease (17/37, 46%), followed by ornithine transcarbamylase (10/37, 27%), arginase (7/37, 19%), and argininosuccinate lyase (3/37, 8%) deficiencies. "
04/01/1976 - "Increased urinary levels of N-carbamoyl-beta-alanine, and also, on occasions, of N-carbamoylaspartate, were observed in patients with ornithine carbamoyl-transferase (EC deficiency, argininosuccinate synthetase (EC deficiency and argininosuccinate lyase (EC, but not in a patient with carbamoylphosphate synthase deficiency. "
10/01/2013 - "This encompasses 5 major disorders, corresponding with deficiency of each step in the urea cycle, namely ornithine transcarbamoylase (OTC) deficiency, argininosuccinate lyase (ASL) deficiency, carbamoyl phosphate synthetase (CPS) deficiency, citrullinemia and argininemia. "
12/05/2002 - "In this review, the differential diagnosis for hyperammonemia are described; deficiencies of ornithine carbamoyl transferase, argininosuccinate synthase (citrullinemia), argininosuccinate lyase and arginase, lysinuric protein intolerance, hyperammonemia-hyperornithinemia-homocitrullinemia syndrome, and citrullinemia type II. The diagnosis of IEM of purine and pyrimidine such as deficiencies of hypoxanthine-guanine phosphoribosyl transferase, adenine phosphoribosyl transferase, dihydropyrimidine dehydrogenase, dihydropyrimidinase and beta-ureidopropionase are described. "
6. Orotic AcidIBA
7. Pyruvic Acid (Pyruvate)IBA
8. SodiumIBA
9. Carbamyl Phosphate (Carbamoyl Phosphate)IBA
10. NitrogenIBA

Therapies and Procedures

1. Liver Transplantation
2. Transplants (Transplant)
3. Renal Dialysis (Hemodialysis)
4. Carbohydrate-Restricted Diet (Low Carbohydrate Diet)
5. Anesthesia