Primary Pyruvate Dehydrogenase Complex Deficiency Overview

Rebecca Ganetzky; Elizabeth M McCormick; Marni J Falk

Primary Pyruvate Dehydrogenase Complex Deficiency Overview

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2021 Jun 17.

Authors

Rebecca Ganetzky¹, Elizabeth M McCormick², Marni J Falk¹

Book Editors

Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen W Gripp, Anne Amemiya

Affiliations

¹ Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania
² Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

PMID: 34138529
Bookshelf ID: NBK571223

Excerpt

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.

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