Table 1.
Main clinical and biochemical alterations
| Analysis | Specimen | Result |
|---|---|---|
| Clinical examination | – | Severe hypotonia, intractable tonic spasms, focal seizures and quadriparesis |
| EEG | – | Multifocal epileptiform discharges |
| MRI | – | High signal intensity of the white matter (1 yo); thinning of corpus callosum (4 yo) |
| Cell count | Blood | Microcytic anemia |
| Redox state | Plasma | Increased lactate (3.64 mM) and lactate/pyruvate ratio (25.58) |
| RC activity | Skeletal muscle | Complex I deficiency (27%) |
| MtDNA content | Skeletal muscle | mtDNA depletion (40%) |
EEG: Electroencephalography; MRI: Magnetic resonance imaging; yo: years old; RC: respiratory chain; mtDNA: mitochondrial DNA.