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Chemical Compound Review

ARGININOSUCCINIC ACID     (2S)-2-[[N'-[(4S)-4-amino-4- carboxy...

Synonyms: HMDB00052, AC1L290K, AC1Q5T28, C03406, 2387-71-5, ...
 
 
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Disease relevance of ARGININOSUCCINIC ACID

 

High impact information on ARGININOSUCCINIC ACID

  • 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 [2].
  • The pregnancy was terminated, and the in utero diagnosis was confirmed by assay of ASA synthetase activity in cultured fetal skin fibroblasts (4.4% of control activity) [2].
  • ASA was not detected in amniotic fluid from the second fetus at risk, and ASA lyase activity in cultured cells was 80% of control activity [5].
  • Enzymatic analysis of erythrocyte lysate confirmed the diagnosis of an unaffected child (ASA lyase = 46% of control) and indicated heterozygosity [5].
  • In addition, eight fetal tissues were analyzed for ASA, and all had significant accumulation [5].
 

Chemical compound and disease context of ARGININOSUCCINIC ACID

 

Anatomical context of ARGININOSUCCINIC ACID

 

Associations of ARGININOSUCCINIC ACID with other chemical compounds

 

Analytical, diagnostic and therapeutic context of ARGININOSUCCINIC ACID

References

  1. Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. Glick, N.R., Snodgrass, P.J., Schafer, I.A. Am. J. Hum. Genet. (1976) [Pubmed]
  2. Citrullinemia: prenatal diagnosis of an affected fetus. Fleisher, L.D., Harris, C.J., Mitchell, D.A., Nadler, H.L. Am. J. Hum. Genet. (1983) [Pubmed]
  3. Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. Scaglia, F., Brunetti-Pierri, N., Kleppe, S., Marini, J., Carter, S., Garlick, P., Jahoor, F., O'Brien, W., Lee, B. J. Nutr. (2004) [Pubmed]
  4. Polyamines and regulation of ornithine biosynthesis in Escherichia coli. Cataldi, A.A., Algranati, I.D. J. Bacteriol. (1989) [Pubmed]
  5. Argininosuccinic aciduria: prenatal studies in a family at risk. Fleisher, L.D., Rassin, D.K., Desnick, R.J., Salwen, H.R., Rogers, P., Bean, M., Gaull, G.E. Am. J. Hum. Genet. (1979) [Pubmed]
  6. A mouse model of argininosuccinic aciduria: biochemical characterization. Reid Sutton, V., Pan, Y., Davis, E.C., Craigen, W.J. Mol. Genet. Metab. (2003) [Pubmed]
  7. Urea cycle disorders in Thai infants: a report of 5 cases. Wasant, P., Srisomsap, C., Liammongkolkul, S., Svasti, J. Journal of the Medical Association of Thailand = Chotmaihet thangphaet. (2002) [Pubmed]
  8. Argininosuccinic aciduria: clinical and biochemical findings in three children with the late onset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines. Gerrits, G.P., Gabreëls, F.J., Monnens, L.A., De Abreu, R.A., van Raaij-Selten, B., Niezen-Koning, K.E., Trijbels, J.M. Neuropediatrics. (1993) [Pubmed]
  9. Identification of fumonisin B1 as an inhibitor of argininosuccinate synthetase using fumonisin affinity chromatography and in vitro kinetic studies. Jenkins, G.R., Tolleson, W.H., Newkirk, D.K., Roberts, D.W., Rowland, K.L., Saheki, T., Kobayashi, K., Howard, P.C., Melchior, W.B. J. Biochem. Mol. Toxicol. (2000) [Pubmed]
  10. Amino acid and enzyme studies of brain and other tissues in an infant with argininosuccinic aciduria. Perry, T.L., Wirtz, M.L., Kennaway, N.G., Hsia, Y.E., Atienza, F.C., Uemura, H.S. Clin. Chim. Acta (1980) [Pubmed]
  11. Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation. von Wendt, L., Similä, S., Ruokonen, A., Puukka, M. Ann. Clin. Res. (1982) [Pubmed]
  12. Expression, purification, crystallization and preliminary X-ray analysis of human argininosuccinic acid lyase. Turner, M.A., Achyuthan, A.M., Hershfield, M.S., McInnes, R.R., Howell, P.L. J. Mol. Biol. (1994) [Pubmed]
  13. Rapid, specific HPLC method for the determination of argininosuccinic acid following pre-column derivatization with o-phthaladehyde. Habbal, Z.M., Sakr, A. Clin. Chim. Acta (1997) [Pubmed]
 
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