| Disease ID | Source | Name | Description |
| 245348 | OMIM | Pyruvate dehydrogenase E2 deficiency (PDHE2 deficiency) | Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent. The disease is caused by variants affecting the gene represented in this entry. |