| Disease ID | Source | Name | Description |
| 614111 | OMIM | Pyruvate dehydrogenase E1-beta deficiency (PDHBD) | An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis. The disease is caused by variants affecting the gene represented in this entry. |