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Pathway Description
beta-Mercaptolactate-Cysteine Disulfiduria
Homo sapiens
Disease Pathway
Created: 2022-11-02
Last Updated: 2023-10-25
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
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Pubmed: 1350904
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Pubmed: 7826375
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Pubmed: 11347887
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