Beta-mercaptolactate cysteine disulfiduria
Synonyms: 3-mercaptopyruvate sulfurtransferase deficiency | Ampola syndrome | MCDU
An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes) leading to a positive cyanide nitroprusside test. Association with intellectual disability congenital lens dislocation and behavioral abnormalities has been reported however the causal link remains to be established. There have been no further descriptions in the literature since 1981.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Beta-mercaptolactate cysteine disulfiduria?
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