Clinical, biochemical and molecular characterization of a new case with FDX2 -related mitochondrial disorder: Potential biomarkers and treatment options.
Parith WongkittichoteCassandra PantanoMiao HeXinying HongMatthew M DemczkoPublished in: JIMD reports (2024)
2-Hydroxyadipic acid can serve as a potential adjunct biomarker for iron-sulfur assembly defects and lipoic acid biosynthesis disorders. Parenteral nutrition containing high lipid and protein content could be used to reverse acute rhabdomyolysis episodes in the patients with FDX2-related disorder.