Disease ID | Source | Name | Description |
250850 | OMIM | Methionine adenosyltransferase deficiency (MATD) | An inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic symptoms may be present in rare cases with severe loss of methionine adenosyltransferase activity. The disease is caused by variants affecting the gene represented in this entry. |