Version July 2023
| Pyruvate carboxylase deficiency |
| Phosphoenopyruvate carboxylase deficiency |
| Pyruvate dehydrogenase complex deficiency |
| Kearns-Sayre syndrome |
| Mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS) |
| Myoclonic epilepsy, ragged red fiber disease (MERRF) |
| Freidrich ataxia |
| Pearson syndrome |
| Succinate dehydrogenase deficiency |
| Cytochrome C oxidase (COX) deficiency |
| Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) |
| Mitochondrial DNA depletion syndromes |
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