Biomarker changes associated with clinical symptoms in MELAS patient

FGF21 and GDF15 are known as useful biomarkers for diagnosis of mitochondrial disorders, though their efficacy for evaluating disease severity is not well established. We determined their levels in a patient with a mitochondrial disorder and report our findings. Both biomarkers were elevated at the initial disease stage and then greatly increased with progression. Furthermore, those levels decreased along with improved clinical symptoms in response to pyruvate therapy.