| Disease ID | Source | Name | Description |
| 277380 | OMIM | Methylmalonic aciduria and homocystinuria, cblF type (MAHCF) | An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12. The disease is caused by variants affecting the gene represented in this entry. |