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Pathway Description
beta-Mercaptolactate-Cysteine Disulfiduria
Homo sapiens
Disease Pathway
Metcaptolactate-cysteine disulfiduria (MCDU) is an autosomal disorder that leads to the loss of function of the enzyme mercaptopyruvate sulfurtransferase. The condition is characterized by the urinary excretion of large amounts of a sulfur-containing amino acid, which is beta-mercaptolactate-cysteine disulfide. Patients exhibit a low IQ, grand mal seizures, flattened nasal bridge, and an excessively arched palate.
References
beta-Mercaptolactate-Cysteine Disulfiduria References
[Metagen: BETA-MERCAPTOLACTATE-CYSTEINE DISULFIDURIA](http://metagene.de/program/d.prg?id_d=26)
[OMIM: 249650](http://omim.org/entry/249650})
Hannestad U, Martensson J, Sjodahl R, Sorbo B: 3-mercaptolactate cysteine disulfiduria: biochemical studies on affected and unaffected members of a family. Biochem Med. 1981 Aug;26(1):106-14.
Pubmed: 6945862
Nagahara N, Nagano M, Ito T, Shimamura K, Akimoto T, Suzuki H: Antioxidant enzyme, 3-mercaptopyruvate sulfurtransferase-knockout mice exhibit increased anxiety-like behaviors: a model for human mercaptolactate-cysteine disulfiduria. Sci Rep. 2013;3:1986. doi: 10.1038/srep01986.
Pubmed: 23759691
Cysteine 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.
Stipanuk MH, Dominy JE Jr, Lee JI, Coloso RM: Mammalian cysteine metabolism: new insights into regulation of cysteine metabolism. J Nutr. 2006 Jun;136(6 Suppl):1652S-1659S. doi: 10.1093/jn/136.6.1652S.
Pubmed: 16702335
Paul BD, Sbodio JI, Snyder SH: Cysteine Metabolism in Neuronal Redox Homeostasis. Trends Pharmacol Sci. 2018 May;39(5):513-524. doi: 10.1016/j.tips.2018.02.007. Epub 2018 Mar 9.
Pubmed: 29530337
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