Children and adults with pyruvate dehydrogenase complex deficiency (PDCD) are participating in a research study seeking to better understand the genetic causes, symptoms, usefulness of current treatments, and outcomes for these disorders. The research project involves completing a questionnaire about the individual or family's medical history and experiences with PDCD, review of medical records by the researchers, and in some cases, advanced genetic testing.
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Survival outcomes in pyruvate dehydrogenase deficiency disease
Timeframe: Data will be collected about duration of survival from birth until the last date known to be living at the time of data analysis.