The purpose of this overview is to increase the awareness of clinicians regarding primary pyruvate dehydrogenase complex deficiency (PDCD) and its genetic causes and management.
The following are the goals of this overview.
Goal 1: Describe the clinical characteristics of primary PDCD.
Goal 2: Review the genetic causes of primary PDCD.
Goal 3: Review the differential diagnosis of primary PDCD.
Goal 4: Provide an evaluation strategy to identify the genetic cause of primary PDCD in a proband (when possible).
Goal 5: Inform (when possible) medical management of primary PDCD based on genetic cause.
Goal 6: Inform genetic risk assessment of family members of a proband with primary PDCD.
Copyright © 1993-2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.