Matthew M. Demczko, MD
Areas of expertise: Care of the medically complex child, Mitochondrial disease, Pediatric rare disease
Locations: Main Building
About Matthew M. Demczko, MD
Titles
Attending Physician
Inpatient Service Director, Mitochondrial Medicine, Division of Human Genetics
Fellowship Director, Mitochondrial Medicine
Education Director, Mitochondrial Genetics
Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania
Certifications
Pediatrics – American Board of Pediatrics
Pediatric Hospital Medicine – American Board of Pediatrics
Awards and Honors
2024, Teacher of the Year, Medical Genetics Residency Program, Children's Hospital of Philadelphia
2021, Clinical Faculty Academic Honor Roll, Jefferson Medical College
2021, Faculty Educator of the Month, Nemours/A.I. Dupont Hospital for Children
2021, Nemours Faculty Teacher of the Year Award, Nemours/A.I. Dupont Hospital for Children
2021, Dean's Award for Excellence in Education, Jefferson Medical College
2019, DE-CTR ACCEL Best Poster Award
2018, Faculty Educator of the Month, Nemours/A.I. Dupont Hospital for Children
2015, Recipient of the Bambi Taylor, M.D. Pediatric Emergency Medicine Award, Nemours/A.I. Dupont Hospital for Children
2015, Recipient of the Pediatric Critical Care Award, Nemours/A.I. Dupont Hospital for Children
2014, Medelita National “Honoring Excellent Resident Observations” Award Nominee, Nemours/A.I. Dupont Hospital for Children
2014, Member, Alpha Omega Alpha Medical Honor Society, Nemours/A.I. Dupont Hospital for Children
2013, Arnold P. Gold Foundation Humanism and Excellence in Teaching Award, Nemours/A.I. Dupont Hospital for Children
2012, Recipient of the Dean Marie Banes Memorial Prize in Pediatrics, Jefferson Medical College
2011, George McClellan Surgical Honor Society, Jefferson Medical College
2011, Gold Humanism Honor Society, Jefferson Medical College
2008, Magna Cum Laude, Franklin & Marhsall College
2008, Phi Beta Kappa Honor Society, Franklin and Marshall College
2008, Biology Senior Award, Franklin & Marhsall College
2008, Sigma Xi Scientific Research Society Prize in Biology, Franklin & Marhsall College
2008, Charles D. Spotts Award in Religious Studies, Franklin & Marhsall College
2008, Morgan D. Person and Frederick C. Schiffman Prizes in Health Professions Studies, Franklin & Marhsall College
2008, Theodore E. Woodward, M.D. Healing Arts Prize, Franklin & Marhsall College
2007, Black Pyramid Senior Honor Society, Franklin & Marhsall College
2007, Isaac E. Roberts Prize in Biology, Franklin & Marhsall College
2007, Bradford S. Kline Memorial Prize for Pre-Medical Biology Student, Franklin & Marhsall College
2006, Benjamin Rush Honor Society of Healing Arts Professionals, Franklin & Marhsall College
2004-2008, John Marshall Scholar, Franklin & Marhsall College
Leadership and Memberships
Memberships in Professional Organizations
2023-present, Society of Inherited Metabolic Diseases
2021-present, Pediatric Academic Societies Annual Meeting (Abstract Reviewer)
2013-present, Alpha Omega Alpha
2012-present, American Academy of Pediatrics
2011-present, Arnold P. Gold Humanism Honor Society
2008-present, Phi Beta Kappa
2008-present, Sigma Xi
Editorial and Academic Positions
Academic and Institutional Committees
2025-present, Complex Care Conference Planning Committee
2022-present, Medical Genetics Residency Admissions Program Committee
2022-present, Program Evaluation Committee for the Genetics Training Programs
Education & training
Medical Degree
MD - Jefferson Medical College, Philadelphia, PA
Internship
Pediatrics - Sidney Kimmel Medical College/Nemours A.I. duPont Hospital For Children, Philadelphia, PA
Residency
Pediatrics - Sidney Kimmel Medical College/Nemours A.I. duPont Hospital For Children, Philadelphia, PA (Chief Resident)
Fellowship
Biochemical Genetics - Clinic for Special Children, Strasburg, PA
Publications
PubMed
Publications
2025
Demczko MM, Ganetzky RD, Tormey C, Ku BC, Blowey B, Lavelle J, Goldstein A. Improving acute care for Primary Mitochondrial Disease: Development of a publicly available clinical care pathway. Mol Genet Metab. 2025 Feb 21;144(4):109058
2024
Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, Shohet A, Orenstein N, Krcho P, Bohuš P, Huovinen S, Udd B, Pelin K, Laing NG, Wallgren-Pettersson C.: A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy. Neuromuscul Disord. 34: 32-40, Jan 2024 Notes:
Wongkittichote P, Pantano C, He M, Hong X, Demczko MM.: Clinical, biochemical and molecular characterization of a new case with FDX2-related mitochondrial disorder: Potential biomarkers and treatment options. JIMD Rep 65(5): 102-109, Jan 2024.
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.
Barca E, Kroopnick A, Houck A, Thakur K, Dugue R, Zolkipli-Cunningham Z, Falk M, Goldstein A, Demczko M, Gavrilova R, Larson A, Van Hove J, Saneto R, Buchsbaum R, Thompson J, Hirano M. Adult-onset Leigh Syndrome: An analysis of the North American Mitochondrial Disease Consortium Database (P3-11.017). Neurology. 2024 Apr 9;102(7_supplement_1):6306
Demczko MM, Ganetzky RD, Tormey C, Ku BC, Blowey B, Lavelle J, Goldstein A. Improving acute care for Primary Mitochondrial Disease: Development of a publicly available clinical care pathway. Mol Genet Metab. 2025 Feb 21;144(4):109058
2023
Wongkittichote P, Ganetzky RD, Demczko MM, Hong X, He M, Master SR: Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder. Clinical Chemistry 69(6): 661-664, Jun 2023.
Wongkittichote P, Pantano C, Bogush E, Alves CAP, Hong X, He M, Demczko MM, Ganetzky RD, Goldstein A: Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers. Mol Genet Metab 140(1-2): 107710, Sept-Oct 2023.
2022
Demczko MM, Liu TT, Napoli JA.: Craniosynostosis in a patient with Fanconi-Bickel syndrome: a case report. Journal of Pediatric Endocrinology and Metabolism 35(1): 1201-1205, Jul 2022.
2021
Aluri J, Bach A, Kaviany S, Chiquetto Paracatu L, Kitcharoensakkul M, Walkiewicz MA, Putnam CD, Shinawi M, Saucier N, Rizzi EM, Harmon MT, Keppel MP, Ritter M, Similuk M, Kulm E, Joyce M, de Jesus AA, Goldbach-Mansky R, Lee YS, Cella M, Kendall PL, Dinauer MC, Bednarski JJ, Bemrich-Stolz C, Canna SW, Abraham SM, Demczko MM, Powell J, Jones SM, Scurlock AM, De Ravin SS, Bleesing JJ, Connelly JA, Rao VK, Schuettpelz LG, Cooper MA.: Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function. Blood 137: 2450-2462, May 2021.
Williams KB, Horst M, Hollinger EA, Freedman J, Demczko MM, Chowdhury D.: Newborn Pulse Oximetry for Infants Born Out-of-Hospital. Pediatrics 148(4): e2020048785, Oct 2021.
2020
Aluri J., Bach A., Kitcharoensakkul M., Putnam C.D., Shinawi M., Saucier N., Ritter M., Abraham S.M., Powell J., Jones S.M., Scurlock A.M., Schuettpelz L.G., Kaviany S., Paracatu L.C., Walkiewicz M.A., Harmon M.T., Keppel, M.P., Similuk, M., Kulm E., Joyce M., de Jesus A.A., Goldbach-Mansky R., Lee Y., Cella M., Dinauer M., Bednarski J.J., Bemrich-Stolz C., Canna S.W., Demczko M.M., De Ravin S.S., Bleesing J.J., Connelly J.A., Rao K., Cooper M.A. Mosaic and Germline Gain-of-function Variants in TLR8 Lead to Primary Immunodeficiency with Lymphoproliferation and Bone Marrow Failure. Blood. Accepted Dec. 2020.
Kavey, R.E.W., Manlhiot, C., Runeckles, K., Collins, T., Gidding, S.S., Demczko, M.M., Clauss, S., Harahsheh, A.S., Mietus-Syder, M., Khoury, M., Madsen, N., McCrindle, B.W. Effectiveness and Safety of Statin Therapy in Children: A Real-World Clinical Practice Experience. CJC Open. (2020).
2019
Demczko, M.M. Inherited Disorders of Metabolism. Merck Manuals, Professional and Consumer Editions. 20th ed. 2019.
Williams K.B., Brigatti K.W., Puffenberger E.G., Gonzaga-Jauregui C., Griffin L.B., Martinez E.D., Wenger O.K., Mark Yoder M., Kandula V., Fox M.D., Demczko M.M., Poskitt L., Furuya K.N., Reid J.G., Overton J.D., Baras A., Miles L., Radhakrishnan K., Carson V.J., Antonellis A., Jinks R.N., Strauss K.A. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Human Molecular Genetics. 28(4):525-38. 2019.
2013
Mackenzie W.G., Dhawale A.A., Demczko M.M., Ditro C., Rogers K.J., Bober M.B., Campbell J.W., Grissom L.E. Flexion-Extension Cervical Spine MRI in Children with Skeletal Dysplasia: Is It Safe and Effective? J Pediatr Orthop. 33(1): 91-8. 2013.
2009
Kelly E., Demczko M.M., Moore C.S. The Effect of Gene Dosage Imbalance and NFATc1 Localization on Endocardial Cushion Development in the Ts65Dn Mouse Model for Down Syndrome. Develop Biol. 331(2):489. 2009.
Abstracts (includes Posters and Scientific Presentations)
2025
Crane H, Pilchman L, Wright R, Gianforcaro K, Eisenberg G, Paidas Teefey C, Horii S, Skraban C, Strong A, Demczko M, Marchese M, Szigety K: Follow the Family History: Neonatal Diagnosis of YARSopathy and Congenital CMV. American College of Human Genetics Annual Clinical Genetics Meeting, Los Angeles, CA, Poster Presentation, 2025.
2024
MacMullen LE, Stanley KD, Santos JD, Flickinger J, Nguyen S, Muraresku C, Tormey C, Demczko MM, Zolkipli-Cunningham Z, Falk MJ, Goldstein AC: Elamipretide via Open Label Expanded Access Program in Patients with Genetically-Confirmed Primary Mitochondrial Disorders United Mitochondrial Disease Foundation Annual Meeting, Cleveland, OH, Poster presentation June 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.
Tormey C, Bogush E, Goldstein A, Demczko MM, Falk MJ: Avoidant/Restrictive Food Intake Disorder (ARFID) in Mitochondrial Disease - a Dangerous Diagnosis. United Mitochondrial Disease Foundation Annual Meeting, Cleveland, OH, Poster presentation June 2024.
Barca E, Kroopnick A, Houck A, Thakur K, Dugue R, Zolkipli-Cunningham Z, Falk MJ, Goldstein A, Demczko MM, Gavrilova R, Larson A, Van Hove J, Saneto R, Buchsbaum R, Thompson J, Hirano M: Adult-Onset Leigh Syndrome: An analysis of the North American Mitochondrial Disease Consortium Database. American Academy of Neurology Meeting, Denver, CO, Poster presentation 2024.
2023
Lehtokari VL, Sagath L, Davis M, Ho D, Kettunen K, Kiiski K, Demczko MM, Krcho P, Stein R, Shohet A, Orenstein N, Udd B, Laing N, Pelin K, Wallgren-Pettersson C: A recurrent ACTA1 amino acid change - mosaic form causes milder asymmetric myopathy. European Human Genetics Conference, Glasgow, Scotland, Poster presentation 2023.
Pantano C, Demczko MM, Ganetzky R, Goldstein A: Implementing the CHOP Mito Care Pathway to deliver clinical care in the inpatient setting. United Mitochondrial Disease Foundation Meeting, Charlotte, NC, Poster presentation 2023.
Semenetz Z, Lewis AM, Arasteh K, Liu T, Demczko MM: Comparison of Two Different Models of Inpatient Care for Medically Complex Children After Spinal Fusion Surgery. Pediatric Academic Societies 2023 Meeting, Washington DC, Poster presentation 2023.
Lectures by Invitation
2025
Demczko M.M. “Genetic Testing: What, How and When to Send?” CHOP Complex Care Conference. Sept 2025.
Demczko M.M. “Synergy with Specialists in Complex Care Pediatrics”, CHOP Complex Care Conference. Sept 2025.
Demczko M.M. “Switching Targets: Rapamycin for Children with Leigh Syndrome”, CHOP Clinical Futures Seminar Series. June 2025.
Demczko M.M. "Management of Primary Mitochondrial Disorders", AdventHealth Grand Rounds, Virtual. June 2025.
2024
Demczko M.M. "Management of Primary Mitochondrial Disorders", Emory Neurohospitalist Educational Conference, Virtual. May 2024.
2023
Demczko M.M. "Building Complex Care Pediatricians Into Subspecialty Teams - Perspectives from Established, Growing, and Novel Programs". Pediatric Academic Societies 2023 Meeting, Washington DC. Apr 2023.
Editorials, Reviews, Chapters
2024
Stefanatos A, Demczko MM, Tormey C, Goldstein A.: Neuropsychiatric Manifestations and Comorbidities of Mitochondrial Disorders. Pediatric Neuropsychiatry: A Case Based Approach. 2nd Edition. Page: In press, 2024 Notes: Chapter.
Demczko MM: Inherited Disorders of Metabolism. Professional and Consumer Editions 2021-24 Notes: Merck Manuals.
2019
Demczko M.M. : A Wave. JAMA 322(9): 815-816, Sep 2019.