| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Pyruvate dehydrogenase P deficiency (PDP1) | lactic acidemia etc | Autosomal Recessive | 8q22.1 | Nonsense | PDP1 | 277G>T | Glu93* | Premature Termination | 0/Cameron et al., 2009 |
