Studies have shown that Pdhα1 gene deficiency can cause Leigh syndrome, lactate accumulation in the neuromuscular system, tumorigenesis, etc.24,25 Dlat belongs to the E2 subunit of the pyruvate dehydrogenase complex, which plays a crucial catalytic role in the conversion of pyruvate to acetyl CoA and is the only way for pyruvate to be converted to acetyl CoA after entering mitochondria.26 Here, PDHA1 is linked to Leigh syndrome.