Last update 08 May 2025

Mercaptolactate-Cysteine Disulfiduria

Basic Info

Synonyms
3-mercaptopyruvate sulfurtransferase deficiency, Ampola syndrome, B mercaptolactate cysteine disulfiduria
+ [15]
Introduction
An extremely rare disorder of methionine cycle and sulphur amino acid metabolism with characteristics of 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 behavioural abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.

Analysis

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