Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

An international consortium of metabolic physicians, neurologists, dietitians, geneticists and patient representatives from Europe and North America published consensus guidelines for diagnosing and managing primary pyruvate dehydrogenase complex deficiency, a monogenic disorder ranging from congenital lactic acidosis to adult-onset neurological presentations. Using a structured literature review, GRADE ratings and Delphi methodology, the group reached consensus on 199 recommendations covering classification, diagnosis, dietary and non-dietary management, surveillance, genetic counselling and transition to adult services. The guidelines also flag evidence gaps and priorities for developing disease-modifying therapies.