| Disease ID | Source | Name | Description |
| 251000 | OMIM | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) | An often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy. The disease is caused by variants affecting the gene represented in this entry. |