| Disease ID | Source | Name | Description |
| 251120 | OMIM | Methylmalonyl-CoA epimerase deficiency (MCEED) | Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. The disease is caused by variants affecting the gene represented in this entry. |