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Pathway Description
gamma-Glutamyltransferase Deficiency
Homo sapiens
Disease Pathway
Gamma-Glutamyltransferase Deficiency is an autosomal recessive disorder caused by a mutation in the GGT1 gene which codes for gamma-glutamyltranspeptidase 1. A deficiency in this enzyme results in accumulation of L-cysteine, gamma-glutamylcysteine, and glutathione in urine. Symptoms, which present at birth, include tall stature, psychosis, and mental retardation.
References
gamma-Glutamyltransferase Deficiency References
[OMIM: Entry 231950](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231950)
[Uniprot: P19440](http://www.uniprot.org/uniprot/P19440)
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.43 Heilbronn: SPS Verlagsgesellschaft
Hammond JW, Potter M, Wilcken B, Truscott R: Siblings with gamma-glutamyltransferase deficiency. J Inherit Metab Dis. 1995;18(1):82-3.
Pubmed: 7623451
Schulman JD, Goodman SI, Mace JW, Patrick AD, Tietze F, Butler EJ: Glutathionuria: inborn error of metabolism due to tissue deficiency of gamma-glutamyl transpeptidase. Biochem Biophys Res Commun. 1975 Jul 8;65(1):68-74.
Pubmed: 238530
Will Y, Fischer KA, Horton RA, Kaetzel RS, Brown MK, Hedstrom O, Lieberman MW, Reed DJ: gamma-glutamyltranspeptidase-deficient knockout mice as a model to study the relationship between glutathione status, mitochondrial function, and cellular function. Hepatology. 2000 Oct;32(4 Pt 1):740-9. doi: 10.1053/jhep.2000.17913.
Pubmed: 11003618
Glutathione 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.
Lu SC: Glutathione synthesis. Biochim Biophys Acta. 2013 May;1830(5):3143-53. doi: 10.1016/j.bbagen.2012.09.008. Epub 2012 Sep 17.
Pubmed: 22995213
Ookhtens M, Kaplowitz N: Role of the liver in interorgan homeostasis of glutathione and cyst(e)ine. Semin Liver Dis. 1998;18(4):313-29. doi: 10.1055/s-2007-1007167.
Pubmed: 9875551
Kaplowitz N, Aw TY, Ookhtens M: The regulation of hepatic glutathione. Annu Rev Pharmacol Toxicol. 1985;25:715-44. doi: 10.1146/annurev.pa.25.040185.003435.
Pubmed: 3890714
Forman HJ, Zhang H, Rinna A: Glutathione: overview of its protective roles, measurement, and biosynthesis. Mol Aspects Med. 2009 Feb-Apr;30(1-2):1-12. doi: 10.1016/j.mam.2008.08.006. Epub 2008 Aug 30.
Pubmed: 18796312
Meister A: Glutathione metabolism and its selective modification. J Biol Chem. 1988 Nov 25;263(33):17205-8.
Pubmed: 3053703
Bachhawat AK, Thakur A, Kaur J, Zulkifli M: Glutathione transporters. Biochim Biophys Acta. 2013 May;1830(5):3154-64. doi: 10.1016/j.bbagen.2012.11.018. Epub 2012 Nov 30.
Pubmed: 23206830
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