Pathogenesis
Methylmalonic acidemia has varying diagnoses, treatment requirements and prognoses, which are determined by the specific genetic mutation causing the inherited form of the disorder. The following are the known genotypes responsible for methylmalonic acidemia:
| OMIM | Name | Gene |
|---|---|---|
| 251100 | cblA type | MMAA |
| 251110 | cblB type | MMAB |
| 277400 | cblC type | MMACHC |
| 277410 | cblD type | MMADHC |
| 277380 | cblF type | LMBRD1 |
| 251000 | mut type | MUT |
Read more about this topic: Methylmalonic Acidemia