Scientists seek clues to rare metabolic disorder in new natural history study

This research study is for children and adults with pyruvate dehydrogenase complex deficiency (PDCD), a rare genetic disorder that affects energy production in cells. Researchers aim to learn more about the genetic causes, symptoms, and long-term outcomes by reviewing medical records and having participants complete questionnaires. Some participants may also undergo advanced genetic testing. The study does not provide any treatment but helps build knowledge for future care.