FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children

LG Riley, M Nafisinia, MJ Menezes, R Nambiar… - Molecular Genetics and …, 2022 - Elsevier
Several studies have shown serum fibroblast growth factor 21 (FGF21) and growth
differentiation factor 15 (GDF15) levels are elevated in patients with mitochondrial disease
(MD) where myopathy is a feature. In this study we investigated the utility of FGF21 and
GDF15 as biomarkers for MD in a phenotypically and genotypically diverse pediatric cohort
with suspected MD against a panel of healthy controls and non-mitochondrial disease
controls with some overlapping clinical features. Serum was collected from 56 children with …