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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Beta-mercaptolactate cysteine disulfiduria?
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Advocacy Organizations
Louisiana Metabolic Disorders Coalition
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Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
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