Koga, Tomohiro, Kita, Kiyoshi, Okumura, Junko et al. · Immunological medicine · 2025 · DOI
This study reports a single patient with ME/CFS who carried a rare genetic mutation affecting how cells produce energy. When treated with a supplement called 5-ALA/SFC along with other nutrients, the patient's fatigue and daily functioning significantly improved. This case suggests that some people with ME/CFS may have mitochondrial (cellular energy) problems related to this genetic change, and that certain supplements might help.
This case supports the growing evidence that mitochondrial dysfunction may underlie ME/CFS in at least some patients, providing a testable biological mechanism. If confirmed in larger cohorts, genetic screening for ADCK1 mutations and targeted mitochondrial therapies could improve diagnostic precision and treatment options for ME/CFS patients who have not responded to standard care.
This is a single case report and does not prove that ADCK1 mutations cause ME/CFS or that 5-ALA/SFC will help all ME/CFS patients. The study cannot establish whether the mutation was directly responsible for this patient's illness, whether the genetic variant was inherited or de novo, or whether the clinical improvement was solely attributable to the new treatment. The findings cannot be generalized beyond this individual.
About the PEM badge: “PEM required” means post-exertional malaise was an explicit required diagnostic criterion for participant inclusion in this study — not that PEM was studied, observed, or discussed. Studies using criteria that do not require PEM (e.g. Fukuda, Oxford) are tagged “PEM not required”. How the atlas works →
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