Lactate and alanine concentration measurement is useful first-line tool in assessing children with suspected mitochondrial disorders. : Our data indicate that examination of B- and CSF-lactate levels can be considered as a determinant of mitochondrial disorders, with an ability to distinguish these patients from the epileptic ones. Our results suggest that there is no effect of short-period tonic-clonic seizures on the significant raise of B-and CSF-lactate concentrations.
Determination of alanine levels also has a high specificity to distinguish between mitochondrial and other multisystem disorders.