- 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
|
|
