Lily Cieslinski was diagnosed with Pyruvate Dehydrogenase Complex Deficiency in 2024. Her parents held a fundraiser to support research just two months later.

pyruvate carboxylase deficiency; VLCADD, very long chain acyl-CoA dehydrogenase deficiency. Adapted with permission from Ward JC. Inborn errors of metabolism of acute onset in infancy. Pediatr Rev ...

medium chain acyl-CoA dehydrogenase deficiency; MMA, methylmalonic acidemia; NAGS, N-acetylglutamate synthetase deficiency; OTC, ornithine transcarbamylase deficiency; PCD, pyruvate carboxylase ...