Matthew M Demczko, MD
Assistant Professor of Clinical Pediatrics (Human Genetics)
Attending Physician, Division of Human Genetics, Mitochondrial Medicine, Children's Hospital of Philadelphia
Director, Mitochondrial Medicine Inpatient Service, Division of Human Genetics, Children's Hospital of Philadelphia
Education and Fellowship Director, Mitochondrial Medicine, Division of Human Genetics, Children's Hospital of Philadelphia
Faculty Member, Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia
Physician Lead, Armellino Center of Excellence for Williams Syndrome, University of Pennsylvania School of Medicine
Department: Pediatrics
Contact information
Children's Hospital of Philadelphia
Division of Genetics
3401 Civic Center Blvd.
Philadelphia, PA 19104
Division of Genetics
3401 Civic Center Blvd.
Philadelphia, PA 19104
Education:
B.A. (Biology and Religious Studies)
Franklin & Marshall College, 2008.
M.D.
Sidney Kimmel Medical College Thomas Jefferson University, 2012.
Permanent linkB.A. (Biology and Religious Studies)
Franklin & Marshall College, 2008.
M.D.
Sidney Kimmel Medical College Thomas Jefferson University, 2012.
Description of Clinical Expertise
Children with Medical ComplexityMitochondrial Disorders
Pediatric Rare Disease
Selected Publications
Megan K. Cox, Andreas Traschütz, Jan Kern, Sara A. Nguyen, Sonal Sharma, Matthew M. Demczko, Andy Ly, Laura E. MacMullen, Colleen Muraresku, Cassandra Pantano, Elizabeth Ballance, Jean Flickinger, Ibrahim George-Sankoh, Suraj Serai, Bing Nie, Niven R. Narain, Vijay Modur, Zarazuella Zolkipli Cunningham, Mathias Synofzik1: Initial experience using intravenous BPM31510IV to restore CoQ10 in pediatric patients with genetically confirmed CoQ10 deficiency. American Society of Human Genetics Annual Meeting, Boston, Massachusetts. Poster Presentation Oct 2025.Amy Goldstein, James Peterson, Marissa Weis, Ibrahim George-Sankoh, Laura MacMullen, Cesar Alves, Elizabeth McCormick, Emily Bogush, Colleen Muraresku, Kaushal Prajapati, Riu Xiao, Sonal Sharma, Matthew Demczko, Isabella Peixoto de Barcelos, Zarazuela Zolkipli-Cunningham, Marni J Falk: Retrospective Natural History Study of POLG Disease in a Mitochondrial Medicine Clinical Research Center. International Conference for Inborn Errors of Metabolism, Kyoto, Japan, Poster Presentation Sept 2025.
MacMullen LE, Stanley KD, Tormey C, Demczko MM, Goldstein A, and Ganetzky R: Individual Patient Expanded Access using Sodium Dichloroacetate for the Treatment of Neonatal Primary Lactic Acidosis at the Children’s Hospital of Philadelphia. United Mitochondrial Disease Foundation Annual Meeting. Poster Presentation Jun 2025.
Stanley KD, MacMullen LD, George-Sankoh I, Tormey C, Goldstein AC, Ganetzky R, Muraresku C, Demczko MM, Zolkipli-Cunningham Z, Falk MJ.: Development and Implementation of a Patient-Driven Patient Reported Outcomes System for Mitochondrial Disease. United Mitochondrial Disease Foundation Annual Meeting, St. Louis, Missouri. Poster Presentation. Jun 2025.
Megan K. Cox, Andreas Traschütz, Jan Kern, Sara A. Nguyen, Sonal Sharma, Matthew M. Demczko, Andy Ly, Laura E. MacMullen, Colleen Muraresku, Cassandra Pantano, Elizabeth Ballance, Jean Flickinger, Ibrahim George-Sankoh, Suraj Serai, Bing Nie, Niven R. Narain, Vijay Modur, Zarazuella Zolkipli Cunningham, Mathias Synofzik1: Initial experience using intravenous BPM31510IV to restore CoQ10 in pediatric patients with CoQ10 deficiency. United Mitochondrial Disease Foundation Annual Meeting, St. Louis, Missouri. Poster Presentation. Jun 2025.
Haley Crane, MS, LCGC; Lisa Pilchman, MS, LCGC; Renee Wright, MS, LCGC; Kathleen Gianforcaro, MS, LCGC; Gabrielle Eisenberg, MS; LCGC; Christina Paidas Teefey, MD; Steven Horii, MD; Cara Skraban, MD; Alanna Strong, MD; Matthew Demczko, MD; Michelle Marchese, MS, LCGC; Shelly Soni, MD: Follow the Family History: Neonatal Diagnosis of YARSopathy and Congenital CMV. American College of Human Genetics Annual Meeting, Los Angeles, California. Poster Presentation Mar 2025.
Matthew M. Demczko: Invited Foreword. Writers for Rare: An Anthology of Personal Stories From the Rare Disease Space. 2025.
Semenetz Z, Lewis AM, Arasteh K, Liu T, Demczko M.: Comparison of 2 Models of Care for Children With Medical Complexity Following Spinal Fusion. Clin Pediatr 63(11): 1537-1543, Nov 2024.
MacMullen LE, Stanley KD, Yeske P, Wilson N, Koenig MK, Clearman A, Russo SN, Poblete M, Guerra WH, Patel N, Cohen BH, Rossman I, Ginsberg M, Steiner S, Coppenger J, Tonni H, Erdesky A, Haas R, Yang J, Ruiz C, Reiner G, Murray S, Maguire A, Massucci S, Martin L, Christodoulou J, Thorburn D, Rahman S, McFarland R, Bertini E, Elsharkawi I, George-Sankoh I, Tormey C, Demczko MM, Zolkipli-Cunningham Z, Goldstein AC, Falk MJ: Leigh Syndrome Roadmap Project: A Natural History Study. United Mitochondrial Disease Foundation Meeting, Cleveland, OH, Poster presentation June 2024.
Stanley KD, Reynolds E, MacMullen LE, Qunell E, Weis M, Tormey C, Demczko MM, Goldstein AC, Falk MJ, Ganetzky R.: The Champ Foundation Registry (CFR): Single Large-Scale Mitochondrial Deletion Syndrome Natural History Study (SLSMDS-NHS) United Mitochondrial Disease Foundation Annual Meeting, Cleveland, OH, Poster presentation June 2024.