Disease association ontology term - MONDO:0009607 - methionine adenosyltransferase deficiency
Term summary
- ID
- MONDO:0009607
- Name
- methionine adenosyltransferase deficiency
- Ontology or CV name
- Disease association
- Definition
- Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.
