Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood

Sinziana Stanescu1, Olatz Villate2, Fernando Andrade3

  • 1Metabolic Diseases Unit, MetabERN, Pediatric Department, University Hospital Ramón y Cajal, Madrid, Spain.

Summary

This study shows that lymphocytes from methylmalonic acidemia (MMA) patients have impaired mitochondrial and glycolytic function. Triheptanoin improved ATP production and glycolysis in these cells, suggesting a potential therapeutic avenue for MMA complications.

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