Article

4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity

2026-02-12

Abstract excerpt

Management of patients with mitochondrial respiratory chain diseases is challenging, in part because of our incomplete understanding of pathogenesis and a lack of biomarkers. Unknown metabolites account for >90% of detected features in modern metabolomics experiments and hold immense untapped promise for new basic and biomedical research. We recently used mass spectrometry-based metabolomics to identify and valida...

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Literature Corpus work: 51469d55-c44b-5e7c-98bb-737823de9d36
DOI: 10.64898/2026.02.10.705117

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