Diagnostic Indicators

  • History
  • Physical Exam
  • Lactate, pyruvate (blood; ±CSF)
  • Amino Acids (serum, urine; ±CSF)
  • Organic Acids (urine)
  • Carnitine & Acyl Carnitine
  • Audiogram
  • ECG
  • Eye exam
  • Blood for mtDNA (if you know what you are looking for… search and detect missions blindly have less of a chance in finding the mutation)
  • Blood for nuclear DNA (limited availability, only a few defects have been identified)
  • Muscle for mtDNA (same as above)
  • Muscle of OXPHOX analysis (spectrophotometry or polarography)
  • Muscle of immunologic staining of mtCOX subunits and nCOX subunits
  • Fibroblast Culture for OXPHOS analysis