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Pathway Description
5-Oxoprolinuria
Rattus norvegicus
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
Njalsson R: Glutathione synthetase deficiency. Cell Mol Life Sci. 2005 Sep;62(17):1938-45. doi: 10.1007/s00018-005-5163-7.
Pubmed: 15990954
Van der Werf P, Stephani RA, Orlowski M, Meister A: Inhibition of 5-oxoprolinase by 2-imidazolidone-4-carboxylic acid. Proc Natl Acad Sci U S A. 1973 Mar;70(3):759-61.
Pubmed: 4514988
Glutathione Metabolism References
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from PW000074
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