Diagnosing primary mitochondrial respiratory chain (RC) dysfunction has long relied on
invasive tissue biopsies, since no blood-based biomarker has been shown to have
sufficiently high sensitivity and specificity across the myriad of individual clinical
presentations. We sought to determine whether cohort-level evaluation of commonly
obtained blood analytes might reveal consistent patterns to discriminate a heterogenous
group of primary mitochondrial RC disease subjects both from control individuals and from …