Marc Yudkoff
Emeritus Professor of Pediatrics (Human Genetics)
Department: Pediatrics
Contact information
CHOP
Division of Metabolism
34th & CIVIC CENTER
Philadelphia, PA 19104
Division of Metabolism
34th & CIVIC CENTER
Philadelphia, PA 19104
Office: 215-590-3376
Fax: 215-590-6804
Fax: 215-590-6804
Email:
YUDKOFF@EMAIL.CHOP.EDU
YUDKOFF@EMAIL.CHOP.EDU
Education:
BA
University of Chicago, 1967.
M.D. (?)
New York Medical College, 1972.
BA
University of Chicago, 1967.
M.D. (?)
New York Medical College, 1972.
Post-Graduate Training
Intern in Pediatrics, Montefiore Hospital and Medical Center, Bronx, New York, 1972-1973.
Resident in Pediatrics, Montefiore Hospital and Medical Center, Bronx, New York, 1973-1975.
Fellow, Division of Metabolism, Childrens's Hospital of Philadelphia, 1975-1978.
Permanent linkIntern in Pediatrics, Montefiore Hospital and Medical Center, Bronx, New York, 1972-1973.
Resident in Pediatrics, Montefiore Hospital and Medical Center, Bronx, New York, 1973-1975.
Fellow, Division of Metabolism, Childrens's Hospital of Philadelphia, 1975-1978.
Description of Itmat Expertise
Dr. Yudkoff is investigating amino acid metabolism in the brain and whole body, focusing on the development of new treatments for children with inborn errors of nitrogen metabolism such as the urea cycle defects. He has developed novel methods with which to measure flux through the urea cycle (the rate of ureagenesis) in a living individual.Selected Publications
Opladen Thomas, Lindner Martin, Das Anibh M, Marquardt Thorsten, Khan Aneal, Emre Sukru H, Burton Barbara K, Barshop Bruce A, Böhm Thea, Meyburg Jochen, Zangerl Kathrin, Mayorandan Sebene, Burgard Peter, Dürr Ulrich H N, Rosenkranz Bernd, Rennecke Jörg, Derbinski Jens, Yudkoff Marc, Hoffmann Georg F: In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis. Molecular genetics and metabolism 117(1): 19-26, Jan 2016.Opladen T, Lindner M, Das AM, Marquardt T, Khan A, Emre SH, Burton BK, Barshop BA, Böhm T, Meyburg J, Zangerl K, Mayorandan S, Burgard P, Dürr UH, Rosenkranz B, Rennecke J, Derbinski J, Yudkoff M, Hoffmann GF.: In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis. Mol Genet Metab. 117(1): 19-26, Jan 2016.
Burrage Lindsay C, Sun Qin, Elsea Sarah H, Jiang Ming-Ming, Nagamani Sandesh C S, Frankel Arthur E, Stone Everett, Alters Susan E, Johnson Dale E, Rowlinson Scott W, Georgiou George, Lee Brendan H: Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Human molecular genetics 24(22): 6417-27, Nov 2015.
Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G; Members of Urea Cycle Disorders Consortium, Lee BH.: Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 24(22): 6417-6427, Nov 15 2015.
Chung WK, Martin K, Jalas C, Braddock SR, Juusola J, Monaghan KG, Warner B, Franks S, Yudkoff M, Lulis L, Rhodes RH, Prasad V, Torti E, Cho MT, Shinawi M.: Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. J Med Genet 52(9): 627, Sep 2015.
Raju Karthik, Doulias Paschalis-Thomas, Evans Perry, Krizman Elizabeth N, Jackson Joshua G, Horyn Oksana, Daikhin Yevgeny, Nissim Ilana, Yudkoff Marc, Nissim Itzhak, Sharp Kim A, Robinson Michael B, Ischiropoulos Harry: Regulation of brain glutamate metabolism by nitric oxide and S-nitrosylation. Science signaling 8(384): ra68, Jul 2015.
Shen Ting-Chin David, Albenberg Lindsey, Bittinger Kyle, Chehoud Christel, Chen Ying-Yu, Judge Colleen A, Chau Lillian, Ni Josephine, Sheng Michael, Lin Andrew, Wilkins Benjamin J, Buza Elizabeth L, Lewis James D, Daikhin Yevgeny, Nissim Ilana, Yudkoff Marc, Bushman Frederic D, Wu Gary D: Engineering the gut microbiota to treat hyperammonemia. The Journal of clinical investigation 125(7): 2841-50, Jul 2015.
Hu C, Tai DS, Park H, Cantero G, Chan E, Yudkoff M, Cederbaum SD, Lipshutz GS.: Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy. Gene Ther 22(2): 216, Feb 2015.
Bhoj E J, Li M, Ahrens-Nicklas R, Pyle L C, Wang J, Zhang V W, Clarke C, Wong L J, Sondheimer N, Ficicioglu C, Yudkoff M: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis. JIMD reports 19: 59-66, 2015.
Rezvani I, Yudkoff M (: Urea Cycle and Hyperammonemia (Arginine, Citrulline, Ornithine). In: Nelson: Textbook of Pediatrics (19th and 20th eds)., Kliegman RM, Bonita Sm St Geme J, Schor N, Behrman R. (eds.). Page: 669-674, 2015.