| Disease ID | Source | Name | Description |
| 614265 | OMIM | Combined malonic and methylmalonic aciduria (CMAMMA) | A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline. The disease is caused by variants affecting the gene represented in this entry. |