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.
Jerry Vockley, MD, PhD