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Citrullinemia

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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

Experts

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 04/01/2002 - "Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia." 03/01/2005 - "Previous studies showed short-term correction of bovine and murine argininosuccinate synthetase (ASS) deficiency after first generation adenoviral-mediated liver gene therapy. " 01/01/1979 - "Studies on liver argininosuccinate synthetase in a patient with citrullinemia and in normal subjects." 01/01/2015 - "Case 1 has a triplication at 9q21.11-q21.33 and segmental paternal isoUPD for 9q21.33-qter, and presented with citrullinemia with a homozygous mutation in the argininosuccinate synthetase gene (ASS1 at 9q34.1). " 11/01/2014 - "The authors present a case of citrullinemia with a genotype of argininosuccinate synthetase (ASS1), c.380 G>A (p.R127Q)/c.380 G>A (p.R127Q), in two alleles. "
2.	Urea (Carbamide)FDA LinkGeneric 10/01/2001 - "The MRI findings of citrullinemia and other urea-cycle defects might be attributed to hyperammonemic encephalopathy, but the manifestations were varied. " 07/05/2000 - "This index of urea cycle activity also distinguished asymptomatic heterozygous carriers of argininosuccinate synthetase deficiency (0. " 08/01/1975 - "Citrullinemia is one of the five aminoacidurias associated with the Krebs-Henseleit urea cycle. " 10/01/1974 - "Letter: The presence of the homoanalogues of substrates of the urea cycle in the presence of argininosuccinate synthetase deficiency." 08/01/1973 - "Citrullinemia and an alternative urea cycle."
3.	LigasesIBA 05/01/2014 - "Type 1 citrullinemia (CTLN1) is an autosomal recessive inherited metabolic disorder caused by anargininosuccinicnate synthetase deficiency. " 08/01/1992 - "We report a 41-year-old male of citrullinemia associated with argininosuccinate acid synthetase deficiency. " 01/01/1984 - "Hyperammoniemia , hypouremia , hypercitrullinemia and the decreased arginino -succinic synthetase activity on skin fibroblast cultures permitted us to diagnose citrullinemia. " 01/01/1983 - "These data provide evidence that, if precise control is maintained over tissue culture variables, citrullinemia can be diagnosed successfully in utero by microassay of ASA synthetase activity in cultured amniotic fluid cells. " 12/12/2003 - "The motif appears to be unique to the N-type PPi synthetase family, and mutations in it are linked, in other systems, to citrullinemia, an often fatal orphan disease. "
4.	Amino Acids FDA Link 04/01/2004 - "Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency." 10/01/1983 - "Initially, he was found to have hypertyrosinemia and hypermethioninemia upon routine neonatal screening for inborn errors of metabolism performed at 4 days of age and was revealed to have citrullinemia upon detailed examination of plasma amino acids. " 02/01/2011 - "Analysis of the amino acids and citrin gene led to the diagnosis of adult-onset type II citrullinemia (CTLN2). " 06/15/2009 - "Thereafter, analyses of plasma amino acids and citrin gene revealed a diagnosis of adult onset type II citrullinemia (CTLN2). " 04/01/2004 - "We determined the dialytic clearance of amino acids involved in ammoniagenesis and nitrogen excretion in a neonate with argininosuccinate synthetase deficiency who underwent acute hemodialysis. "
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 2.1.3.3) deficiency, argininosuccinate synthetase (EC 6.3.4.5) deficiency and argininosuccinate lyase (EC 4.3.2.1)deficiency, 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 11/01/1999 - "Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency." 02/01/2014 - "Urinary orotic acid was elevated, consistent with the urea cycle disorder type 1 citrullinemia. " 08/01/1980 - "Orotic acid excretion in urine in increased in ornithine transcarbamylase deficiency, citrullinemia and argininemia; it is barely increased in argininosuccinic aciduria and normal in carbamylphosphate synthetase deficiency and in hyperammonemia due to organic aciduria. " 03/01/2014 - "Argininosuccinate synthetase deficiency (citrullinemia type 1) is a rare autosomal recessive disorder of the urea cycle characterized by elevated concentrations of citrulline, ammonia, and orotic acid, manifesting with acute hyperammonemic crises, usually early in life, with concurrent neurologic deterioration. "
7.	Pyruvic Acid (Pyruvate)IBA 06/01/2014 - "Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet." 11/01/2010 - "[Therapeutic approaches for patients with adult-onset type II citrullinemia (CTLN2): effectiveness of treatment with low-carbohydrate diet and sodium pyruvate]." 08/01/2013 - "A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine."
8.	SodiumIBA 06/01/2014 - "Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet." 11/01/2010 - "[Therapeutic approaches for patients with adult-onset type II citrullinemia (CTLN2): effectiveness of treatment with low-carbohydrate diet and sodium pyruvate]." 08/01/2013 - "A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine."
9.	Carbamyl Phosphate (Carbamoyl Phosphate)IBA 12/01/1991 - "The therapy was effective in avoiding neonatal hyperammonemic coma and death in seven patients with carbamoyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, and argininosuccinate lyase deficiency. " 03/01/1992 - "Hyperammonemia, abnormalities in plasma amino acids and abnormalities of standard liver functions were corrected by orthotopic liver transplantation in a 14-day-old boy with carbamyl phosphate synthetase-I deficiency and in a 35-yr-old man with argininosuccinic acid synthetase 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. "
10.	NitrogenIBA 12/01/1995 - "To monitor long-term survival and outcome of patients with neonatal-onset argininosuccinate synthetase deficiency (ASD) who were treated with specific therapeutic protocols designed to activate alternative pathways of waste nitrogen excretion. " 04/01/2004 - "We determined the dialytic clearance of amino acids involved in ammoniagenesis and nitrogen excretion in a neonate with argininosuccinate synthetase deficiency who underwent acute hemodialysis. "

Therapies and Procedures

1.	Liver Transplantation 06/01/2011 - "We report the case of a patient with type II citrullinemia who was treated successfully with auxiliary partial orthotopic liver transplantation (APOLT) from a living donor. " 11/01/2013 - "Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: our experience and a review of the literature." 09/01/2012 - "We report the first two cases of adult-onset type II citrullinemia (CTLN2) successfully treated by liver transplantation from deceased donors in Japan. " 09/01/2012 - "First two cases of adult-onset type II citrullinemia successfully treated by deceased-donor liver transplantation in Japan." 06/01/2011 - "Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia."
2.	Transplants (Transplant) 01/01/2001 - "However, patients with citrullinemia have also received transplants, but more so in Europe and Japan. " 01/01/2011 - "We report the outcome of a patient with citrullinemia Type 2 who received a liver transplant at our center and the implications of this diagnosis in liver transplantation." 04/01/2004 - "The feasibility of auxiliary partial orthotopic liver transplantation (APOLT) for adult-onset type II citrullinemia to overcome the problem of a small-for-size graft in living donor liver transplantation has not been defined. " 01/15/2001 - "Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor." 01/01/2002 - "Such intensified dialysis therapy may be effective for adult-onset type II citrullinemia and may be applicable even in patients who do not have end-stage renal disease if liver transplant is not an option."
3.	Renal Dialysis (Hemodialysis) 01/01/2002 - "A patient with adult-onset type II citrullinemia on long-term hemodialysis: reversal of clinical symptoms and brain MRI findings." 04/01/2004 - "Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency." 01/01/2012 - "She was successfully treated with intravenous benzoate and hemodialysis, and was subsequently diagnosed with citrullinemia on the basis of biochemical analysis. " 04/01/2004 - "We determined the dialytic clearance of amino acids involved in ammoniagenesis and nitrogen excretion in a neonate with argininosuccinate synthetase deficiency who underwent acute hemodialysis. "
4.	Carbohydrate-Restricted Diet (Low Carbohydrate Diet) 06/01/2014 - "Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet." 11/01/2010 - "[Therapeutic approaches for patients with adult-onset type II citrullinemia (CTLN2): effectiveness of treatment with low-carbohydrate diet and sodium pyruvate]."
5.	Anesthesia 08/01/2014 - "Further studies are required to identify a safe method for anesthesia in citrullinemia."