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yudkoff [at] email.chop.edu
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3615 Civic Center Blvd
Philadelphia, PA 19104
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Marc Yudkoff, MD
Marc Yudkoff
Investigator

Dr. Yudkoff's research is focused on the use of stable isotopes to measure the rate of production of urea in humans who have a urea cycle defect, or a congenital inability to detoxify ammonia into urea.

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Bio

Dr. Yudkoff's research is focused on the use of stable isotopes to measure the rate of production of urea in humans who have a urea cycle defect, or a congenital inability to detoxify ammonia into urea.

His major research achievements include the development of stable isotope assays that measure the rate of urea production in children and adults who are born with a congenital inability to detoxify ammonia to urea (that is, a “urea cycle defect”). These individuals are at high risk of suffering irreparable neurologic damage because of the toxic effects on the developing brain of high concentrations of blood ammonia. The assay Dr. Yudkoff developed has proved of great importance in terms of affording a biomarker that gauges the efficacy of gene transfer (“gene therapy”) to correct the underlying metabolic defect.

Dr. Yudkoff has also contributed to the understanding of the biochemistry by which a high-fat diet (the ketogenic diet) leads to improved seizure control in children with otherwise intractable epilepsy. His research demonstrated that one effect of the ketogenic diet is to facilitate the rate at which the brain produces GABA, the most important inhibitory neurotransmitter of the central nervous system.

Education and Training

BA, University of Chicago (English), 1967

MD, New York Medical College, 1972

Titles and Academic Titles

Investigator

Professor of Pediatrics

William T. Grant Endowed Chair in Child Development and Rehabilitation

Publication Highlights

Yudkoff M, Mew NA, Daikhin Y, Horyn O, Nissim I, Payan I, Tuchman M. Measuring in vivo ureagenesis with stable isotopes. Mol Genet Metab. 2010 Feb; 100 Suppl 1:S37-41. PMID: 20338795
Yudkoff M, Daikhin Y, Nissim I, Lazarow A, Nissim I. Ketogenic diet, amino acid metabolism and seizure control. J. Neurosci. Res. 2001 Dec; 66(5):931-40. PMID: 11746421