Scientists seek genetic clues in rare energy disorder

This study aims to learn more about pyruvate dehydrogenase complex deficiency (PDCD), a rare disorder that affects the body's energy production, especially in the brain. Researchers will track the health of about 150 children and adults with PDCD over time by reviewing medical records and asking questions about their symptoms and treatments. The main goal is to build a detailed picture of how the disease progresses and to find its genetic causes, which could help guide future research.