Pyruvate dehydrogenase deficiency can result from mutations in any of the enzymes or cofactors.

The diseases, Pyruvate dehydrogenase deficiency and De Vivo disease prevent the body from using carbohydrate as fuel, which leads to a dependency on ketone bodies.

Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood.

Pyruvate Dehydrogenase Deficiency (PDCD) is one of the most common neurodegenerative disorders associated with abnormal mitochondrial metabolism. "

Pyruvate dehydrogenase deficiency (PDH) is a genetic disease resulting in lactic acidosis as well as neurological dysfunction in infancy and early childhood.

Blass' interest in this topic began at NIH, where he described the first hereditary defect in a major enzyme of human oxidative/energy metabolism (pyruvate dehydrogenase deficiency).