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Pathway Description
5-Oxoprolinuria
Homo sapiens
Disease Pathway
5-Oxoprolinuria (5-Oxoprolinase deficiency) is a result of a defect in the gamma-glutamyl cycle due to either 5-oxoprolinase or glutathione synthetase deficiency. In the case of glutathione synthetase deficiency, the glycine is not incorporated into gamma-glutamylcysteine. In the case of 5-oxoprolinase, however, pyroglutamic acid accumulates. Symptoms include anemia, mental retardation, metabolic acidosis, respiratory distress and urolithiasis.
References
5-Oxoprolinuria References
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.78 Heilbronn: SPS Verlagsgesellschaft
Divry P, Roulaud-Parrot F, Dorche C, Zabot MT, Contraire B, Hagenfeldt L, Larsson A: 5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome. J Inherit Metab Dis. 1991;14(3):341-4. doi: 10.1007/BF01811698.
Pubmed: 1770788
Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S: Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. Hum Genet. 2005 Apr;116(5):384-9. doi: 10.1007/s00439-005-1255-6. Epub 2005 Feb 17.
Pubmed: 15717202
Spielberg SP, Kramer LI, Goodman SI, Butler J, Tietze F, Quinn P, Schulman JD: 5-oxoprolinuria: biochemical observations and case report. J Pediatr. 1977 Aug;91(2):237-41. doi: 10.1016/s0022-3476(77)80819-6.
Pubmed: 874680
Njalsson R: Glutathione synthetase deficiency. Cell Mol Life Sci. 2005 Sep;62(17):1938-45. doi: 10.1007/s00018-005-5163-7.
Pubmed: 15990954
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
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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