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Pathway Description
Pyruvate Carboxylase Deficiency
Homo sapiens
Disease Pathway
Pyruvate carboxylase deficiency is caused by mutation in the pyruvate carboxylase gene. Serine—pyruvate aminotransferase catalyzes the reaction of serine and pyruvate to produce 3-hydroxypyruvate and L-alanine, as well as the reaction from L-alanine and glyodxylate to pyruvate and glycine. A defect in this results in accumulation of ammonia, glucose and pyruvate in blood; proline, lysine, citrulline, and alanine in plasma; and 2-oxoglutaric acid, fumaric acid, ketone bodies and succinate in urine. Symptoms include ataxia, lactic acidosis, mental retardation, metabolic acidosis, siezures, and dyspnea.
References
Pyruvate Carboxylase Deficiency References
[OMIM: Entry 266150](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266150)
[Uniprot: P11498](http://www.uniprot.org/uniprot/P11498)
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.86 Heilbronn: SPS Verlagsgesellschaft
Bartlett K, Ghneim HK, Stirk JH, Dale G, Alberti KG: Pyruvate carboxylase deficiency. J Inherit Metab Dis. 1984;7 Suppl 1:74-8.
Pubmed: 6434849
Brun N, Robitaille Y, Grignon A, Robinson BH, Mitchell GA, Lambert M: Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form. Am J Med Genet. 1999 May 21;84(2):94-101.
Pubmed: 10323732
Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH: Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. Am J Hum Genet. 1998 Jun;62(6):1312-9. doi: 10.1086/301884.
Pubmed: 9585612
Monnot S, Serre V, Chadefaux-Vekemans B, Aupetit J, Romano S, De Lonlay P, Rival JM, Munnich A, Steffann J, Bonnefont JP: Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. Hum Mutat. 2009 May;30(5):734-40. doi: 10.1002/humu.20908.
Pubmed: 19306334
Wang D, De Vivo D: Pyruvate Carboxylase Deficiency
Pubmed: 20301764
Alanine Metabolism 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.
MacDonald M, Neufeldt N, Park BN, Berger M, Ruderman N: Alanine metabolism and gluconeogenesis in the rat. Am J Physiol. 1976 Aug;231(2):619-26. doi: 10.1152/ajplegacy.1976.231.2.619.
Pubmed: 961915
Ruderman NB, Schmahl FW, Goodman MN: Regulation of alanine formation and release in rat muscle in vivo: effect of starvation and diabetes. Am J Physiol. 1977 Aug;233(2):E109-14. doi: 10.1152/ajpendo.1977.233.2.E109.
Pubmed: 888947
Garber AJ, Karl IE, Kipnis DM: Alanine and glutamine synthesis and release from skeletal muscle. I. Glycolysis and amino acid release. J Biol Chem. 1976 Feb 10;251(3):826-35.
Pubmed: 1249058
Garber AJ, Karl IE, Kipnis DM: Alanine and glutamine synthesis and release from skeletal muscle. II. The precursor role of amino acids in alanine and glutamine synthesis. J Biol Chem. 1976 Feb 10;251(3):836-43.
Pubmed: 1249059
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