Last update 01 Nov 2024

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

Perform a panoramic analysis of this field.
Perform a panoramic analysis of this field.
Chat with Hiro
Get started for free today!
Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.
Start your data trial now!
Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.
Bio
Bio Sequences Search & Analysis
Sign up for free
Chemical
Chemical Structures Search & Analysis
Sign up for free