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Pathway Description
beta-Mercaptolactate-Cysteine Disulfiduria
Rattus norvegicus
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
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
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 PW000475
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