From: Novel MTO1 mutations associated with an intrafamilial phenotypic variability
Laboratory parameters | Index case | Younger Sibling | Reference range |
---|---|---|---|
Blood lactate (mmol/L) | 10.20 | 6.5 | 0.62–2.44 |
Respiratory chain enzyme complex III (nmol/min/mg) | 15.40 | 54.9 | 35.00–65.00 |
Respiratory chain enzyme complex IV (nmol/min/mg) | 6.10 | 5.7 | 16.00–30.00 |
Lactate to pyruvate ratio | NA | 53 | 10–25 |
Plasma alanine (umol/L) | NA | 550 | 236–410 |