| Disease ID | Source | Name | Description |
| 616034 | OMIM | 2,4-dienoyl-CoA reductase deficiency (DECRD) | A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia. The disease is caused by variants affecting the gene represented in this entry. |