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Pathway Description
Carbamoyl Phosphate Synthetase Deficiency
Homo sapiens
Disease Pathway
CCarbamoyl Phosphate Synthetase Deficiency, also called hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the urea cycle caused by a defective CPS1 gene. The CPS1 gene codes for the protein carbamoyl phosphate synthetase I, which plays a role in the urea cycle. This disorder is characterized by a large accumulation of ammonia in the blood. Symptoms of the disorder include unusual movements, seizures, unusual sleeping or coma. Treatment with citrulline or arginine, which maintains a regular rate of protein creation. It is estimated that carbamoyl phosphate synthetase deficiency affects 1 in 800,000 individuals in Japan.
References
Carbamoyl Phosphate Synthetase Deficiency References
[Uniprot: P31327](http://www.uniprot.org/uniprot/P31327)
[OMIM: Entry 237300](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=237300)
[eMedicine: Article 942159-overview](http://emedicine.medscape.com/article/942159-overview)
Hoshide R, Matsuura T, Haraguchi Y, Endo F, Yoshinaga M, Matsuda I: Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing. J Clin Invest. 1993 May;91(5):1884-7. doi: 10.1172/JCI116405.
Pubmed: 8486760
McReynolds JW, Crowley B, Mahoney MJ, Rosenberg LE: Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency. Am J Hum Genet. 1981 May;33(3):345-53.
Pubmed: 7246541
Finckh U, Kohlschutter A, Schafer H, Sperhake K, Colombo JP, Gal A: Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. Hum Mutat. 1998;12(3):206-11. doi: 10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E.
Pubmed: 9711878
Yefimenko I, Fresquet V, Marco-Marin C, Rubio V, Cervera J: Understanding carbamoyl phosphate synthetase deficiency: impact of clinical mutations on enzyme functionality. J Mol Biol. 2005 May 27;349(1):127-41. doi: 10.1016/j.jmb.2005.03.078. Epub 2005 Apr 12.
Pubmed: 15876373
Craigen WJ. Mouse Models of Human Genetic Disorders. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. eds. The Online Metabolic and Molecular Bases of Inherited Disease New York, NY: McGraw-Hill; 2014. http://ommbid.mhmedical.com/content.aspx?bookid=971§ionid=62642751.
Urea Cycle References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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