4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity
Owen S. Skinner, María Miranda, Fangcong Dong, Tessa Struhl, Melissa Anne Walker, Grigorij Schleifer, Matthew T. Henke, Jon Clardy, Michio Hirano, Darryl C. De Vivo, Eric A. Schon, Kris Engelstad, Stephanie Siegmund, Catherine Laprise, Christine Des Rosiers, , Rohit Sharma
This paper identifies 4,5-dihydroxyhexanoic acid as a biomarker for mitochondrial disease severity and links it to GABA metabolism.
bioRxiv · Feb 12, 2026 · PreprintBiochemistry