MarcPYudkoffMD

Medical Genetics • Philadelphia, PA

Clinical Biochemical Genetics, Clinical Genetics

Professor, Pediatrics, Perelman School of Medicine

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Office
3500 Civic Center Blvd
Philadelphia, PA 19104
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Education & Training

Presbyterian Medical Center of the University of Pennsylvania Health SystemResidency, Internal Medicine, 1975 - 1978
Montefiore Medical Center/Albert Einstein College of MedicineResidency, Pediatrics, 1972 - 1975
New York Medical CollegeClass of 1972
Children's Hospital of PhiladelphiaFellowship, Clinical Biochemical Genetics

Certifications & Licensure

PA State Medical License 1975 - 2024
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Pediatrics Pediatrics

Clinical Trials

Longitudinal Study of Urea Cycle Disorders Start of enrollment: 2006 Feb 01
Recruiting
Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Start of enrollment: 2010 Dec 01
Withdrawn
Phase 2
Oxidative Stress, Inflammation and Acute Decompensation in Urea Cycle Disorders Start of enrollment: 2012 Feb 01
Terminated
Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Start of enrollment: 2012 Sep 01
Terminated
Phase 2
Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Start of enrollment: 2012 Sep 01
Completed
Phase 2
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Publications & Presentations

PubMed

1 citations
Phenotypes of undiagnosed adults with actionableandvariants.
Jessica I Gold, Joseph Park, Hana Zouk, Emma Perez, Alanna Strong, Theodore G Drivas, Amel Karaa, Marc Yudkoff, Daniel Rader, , , Robert C Green, Nina B Gold, Madhavan...> ;HGG Advances. 2023 Oct 12
1 citations
Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life.
Donna DiVito, Amanda Wellik, Jessica Burfield, James Peterson, Jean Flickinger, Alyssa Tindall, Kimberly Albanowski, Shailee Vishnubhatt, Laura MacMullen, Isaac Martin...> ;Neurotherapeutics. 2023 Oct 1
1 citations
Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.
Amanda Barone Pritchard, Kosuke Izumi, Irma Payan-Walters, Marc Yudkoff, Elizabeth B Rand, Elizabeth Bhoj> ;American Journal of Medical Genetics. Part A. 2022 May 1
6 citations
Hepatic Manifestations of Urea Cycle Disorders.
Alanna Strong, Jessica Gold, Nina B. Gold, Marc Yudkoff> ;Clinical Liver Disease. 2021 Sep 1
9 citations
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.
Roland Posset, Sven F. Garbade, Florian Gleich, Andrea L. Gropman, Pascale de Lonlay, Georg F. Hoffmann, Angeles Garcia-Cazorla, Sandesh C.S. Nagamani, Matthias R. Bau...> ;Scientific Reports. 2020 Jul 20
5 citations
Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy
Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro, Can Ficicioglu> ;Orphanet Journal of Rare Diseases. 2019 Aug 14
34 citations
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Roland Posset, Andrea L. Gropman, Sandesh C.S. Nagamani, Lindsay C. Burrage, Jirair K. Bedoyan, Derek Wong, Gerard T. Berry, Matthias R. Baumgartner, Marc Yudkoff, Mat...> ;Annals of Neurology. 2019 Jul 1
22 citations
Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Sa...
Françoise Smets, Dries Dobbelaere, Patrick J. McKiernan, Carlo Dionisi-Vici, Pierre Broué, Emmanuel Jacquemin, Ana Isabel Lopes, Isabel S. Gonçalves, Hanna Mandel, Joa...> ;Transplantation. 2019 Feb 18
14 citations
Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism
Kimberly A. Chapman, Julian Ostrovsky, Meera Rao, Stephen D. Dingley, Erzsebet Polyak, Marc Yudkoff, Rui Xiao, Michael J. Bennett, Marni J. Falk> ;Journal of Inherited Metabolic Disease. 2018 Mar 1
14 citations
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders
Jochen Meyburg, Thomas Opladen, Ute Spiekerkötter, Andrea Schlune, Jens-Peter Schenk, Jan Schmidt, Jürgen Weitz, Jürgen G. Okun, Friederike Bürger, Tawfeg Ben Omran, G...> ;Journal of Inherited Metabolic Disease. 2018 Jan 1
3 citations
Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia.
Katherine T. Wild, Rebecca D. Ganetzky, Marc Yudkoff, Lynne Ierardi-Curto> ;JIMD Reports. 2018 Sep 6
120 citations
A role for bacterial urease in gut dysbiosis and Crohn’s disease
Josephine Ni, Ting-Chin David Shen, Eric Z. Chen, Kyle Bittinger, Aubrey Bailey, Manuela Roggiani, Alexandra Sirota-Madi, Elliot S. Friedman, Lillian Chau, Andrew Lin,...> ;Science Translational Medicine. 2017 Nov 15
13 citations
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience
Rebecca C. Ahrens-Nicklas, Ashley M Whitaker, Paige Kaplan, Sanmati Cuddapah, Jessica Burfield, Jennifer Blair, Ligia Brochi, Marc Yudkoff, Can Ficicioglu> ;Genetics in Medicine. 2017 Feb 2
81 citations
Interactions in the Metabolism of Glutamate and the Branched-Chain Amino Acids and Ketoacids in the CNS.
Marc Yudkoff> ;Neurochemical Research. 2017 Jan 1
33 citations
Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders
Catherine DeBrosse, Ravi Prakash Reddy Nanga, Neil E. Wilson, Kevin D'Aquilla, Mark A. Elliott, Hari Hariharan, Felicia Yan, Kristin Wade, Sara Nguyen, Diana Worsley, ...> ;JCI Insight. 2016 Nov 3
11 citations
Stable isotopes in the diagnosis and treatment of inherited hyperammonemia
Nicholas Ah Mew, Marc Yudkoff, Mendel Tuchman> ;Journal of Pediatric Biochemistry. 2016 Aug 3
5 citations
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.
Thomas Opladen, Martin Lindner, Anibh M. Das, Thorsten Marquardt, Aneal Khan, Sukru Emre, Barbara K. Burton, Bruce A. Barshop, Thea Böhm, Jochen Meyburg, Kathrin Zange...> ;Molecular Genetics and Metabolism. 2016 Jan 1
40 citations
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy
Wendy K. Chung, Kimberly A. Martin, Chaim Jalas, Stephen R. Braddock, Jane Juusola, Kristin G. Monaghan, Barbara B. Warner, Samuel Franks, Marc Yudkoff, Lauren Lulis, ...> ;Journal of Medical Genetics. 2015 Jul 16
92 citations
Regulation of brain glutamate metabolism by nitric oxide and S-nitrosylation
Karthik Raju, Paschalis-Thomas Doulias, Perry Evans, Elizabeth N. Krizman, Joshua G. Jackson, Oksana Horyn, Yevgeny Daikhin, Ilana Nissim, Marc Yudkoff, Itzhak Nissim,...> ;Science Signaling. 2015 Jul 7
119 citations
Engineering the gut microbiota to treat hyperammonemia
Ting-Chin David Shen, Lindsey Albenberg, Kyle Bittinger, Christel Chehoud, Ying-Yu Chen, Colleen A. Judge, Lillian Chau, Josephine Ni, Michael Sheng, Andrew Lin, Benja...> ;The Journal of Clinical Investigation. 2015 Jul 1
4 citations
Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy.
C Hu, D S Tai, H Park, G Cantero, G Cantero-Nieto, E Chan, M Yudkoff, S D Cederbaum, G S Lipshutz> ;Gene Therapy. 2015 Feb 1
2 citations
Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy.
C Hu, D S Tai, H Park, G Cantero, E Chan, M Yudkoff, S D Cederbaum, G S Lipshutz> ;Gene Therapy. 2015 Feb 1
22 citations
Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with n-carbamyl-l-glutamate
Nicholas Ah Mew, Robert McCarter, Yevgeny Daikhin, Uta Lichter-Konecki, Ilana Nissim, Marc Yudkoff, Mendel Tuchman> ;The Journal of Pediatrics. 2014 Aug 1
36 citations
The molecular and metabolic influence of long term agmatine consumption.
Itzhak Nissim, Oksana Horyn, Yevgeny Daikhin, Pan Chen, Changhong Li, Suzanne Wehrli, Ilana Nissim, Marc Yudkoff> ;The Journal of Biological Chemistry. 2014 Apr 4
25 citations
In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans
Samantha A. Schrier Vergano, Meera Rao, Shana E. McCormack, Julian Ostrovsky, Colleen Clarke, Judith Preston, Michael J. Bennett, Marc Yudkoff, Rui Xiao, Marni J. Falk> ;Molecular Genetics and Metabolism. 2014 Mar 1
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Journal Articles

A Role for Bacterial Urease in Gut Dysbiosis and Crohn’s Disease
Marc Yudkoff, Josephine Ni, Lindsey Albenberg, Ramnik J Xavier, James D Lewis, Robert N Baldassano, Science Magazine
Muscle Oxidative Phosphorylation Quantitation Using Creatine Chemical Exchange Saturation Transfer (CrCEST) MRI in Mitochondrial Disorders
Ravinder Reddy, Marni J Falk, Marc Yudkoff, Katherine L Nathanson, Shana E McCormack, The Journal of Clinical Investigation

Hospital Affiliations

Doylestown HealthDoylestown, Pennsylvania
Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvania
Hospital of the University of PennsylvaniaPhiladelphia, Pennsylvania