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Lily Cieslinski was diagnosed with Pyruvate Dehydrogenase Complex Deficiency in 2024. Her parents held a fundraiser to support research just two months later.
medium chain acyl-CoA dehydrogenase deficiency; MMA, methylmalonic acidemia; NAGS, N-acetylglutamate synthetase deficiency; OTC, ornithine transcarbamylase deficiency; PCD, pyruvate carboxylase ...
Here they show that reduced pyruvate dehydrogenase (PDH) activity lowers locomotion but extends lifespan in daphnids and show that inhibition of PDH can increase lifespan in these species.