Pyruvate Dehydrogenase Complex

Pyruvate Dehydrogenase Complex (PDC) Deficiency is type of metabolic disease when individuals are not able to break down nutrients in food to use for energy.

This disease is caused by a variant in the PDHA1 gene. Common clinical symptoms of PDC are lethargy, feeding difficulties, tachypnea, developmental delay, ataxia, and hypotonia. Current clinical trials include treatment with DCA as a targeted therapy for PDC Deficiency.

Principal Investigator

Jerry Vockley, MD, PhD