| Disease ID | Source | Name | Description |
| 246900 | OMIM | Dihydrolipoamide dehydrogenase deficiency (DLDD) | An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. The disease is caused by variants affecting the gene represented in this entry. |