| Disease ID | Source | Name | Description |
| 613646 | OMIM | Methylmalonic aciduria, transient, due to transcobalamin receptor defect (MMATC) | A metabolic disorder characterized by increased blood C3-acylcarnitine levels, elevated methylmalonate and homocysteine, and low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin. The disease may be caused by variants affecting the gene represented in this entry. |