| Disease ID | Source | Name | Description |
| 614741 | OMIM | Mitochondrial pyruvate carrier deficiency (MPYCD) | An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy. The disease is caused by variants affecting the gene represented in this entry. |