Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]
Official Title: Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies (North American Mitochondrial Disease Consortium, Rare Diseases Clinical Research
Brief Summary: Children and adults with pyruvate dehydrogenase complex (PDC) deficiency 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 PDC deficiency, review of medical records by the researchers, and in some cases, advanced genetic testing. A blood draw will be requested, and an optional skin biopsy is part of the study for some participants.