Marc Yudkoff, MD

male silhouette icon
Marc Yudkoff, MD, is an attending physician with the Metabolic Disease Program and the Metabolomics Research Director at Children's Hospital of Philadelphia.

Areas of Expertise: Brain and whole body amino acid metabolism
Locations: Main Hospital

Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)


Marc Yudkoff, MD, is an attending physician with the Metabolic Disease Program at Children’s Hospital of Philadelphia (CHOP). He is a graduate of New York Medical College and has board certifications from the American Board of Medical Genetics/Biochemical Genetics and American Board of Pediatrics.

His areas of expertise are brain and whole body amino acid metabolism, providing care to children with chronic, inherited disorders of metabolism. This challenging field provides Dr. Yudkoff the opportunity to build long-lasting relationships with his patients and their families.

The relationship-focused approach to care drives his passion for the work he does at CHOP. “Each family should feel that their child received compassionate, state-of-the-art care,” Dr. Yudkoff says. 

His research includes brain amino acid metabolism and mass spectrometry-stable isotopes, which is allowing him to develop new therapies as well as enhance existing treatments. “This field allowed me to pursue my interest in human development and genetics,” he says. “Right now, the field of genetics is revolutionizing science and medicine.”

“I am trying to develop new therapies for rare genetic disorders where the body cannot turn food into energy,” says Dr. Yudkoff. “Some treatments involve gene transfer, or the effort to restore a deficient enzyme to youngsters with these metabolic diseases.”

Dr. Yudkoff has worked for more than 40 years in biochemical genetics. He remains at the forefront of this constantly evolving field in order to provide the best possible care to his young patients.

“I have seen previously unknown disorders become recognized and classified as diseases,” he says. “I anticipate that over the coming decades the concept of ‘genetics’ will go beyond disorders to include the whole person.”

The most rewarding part of his work, he says, is “the opportunity to see my patients grow and develop — and to have my own role in that process acknowledged by their parents.”

Education and Training

Medical School

New York Medical College, Valhalla, NY


Montefiore Hospital and Medical Center, New York, NY


Montefiore Hospital and Medical Center, New York, NY


The Children's Hospital of Philadelphia, Philadelphia. Pa.

Board Certification

Clinical Biochemical Genetics – American Board of Medical Genetics and Genomics
Pediatrics – American Board of Pediatrics

Titles and Academic Titles

Attending Physician

Director, Metabolomics Research

Conditions Treated

Departments and Services

Research Interests

Brain amino acid metabolism
Mass Spectrometry-stable isotopes



Yudkoff M, Ah Mew N, Daikhin Y, Horyn O, Nissim I, Nissim I, Payan I, Tuchman M. Measuring in vivo ureagenesis with stable isotopes. Mol Genet Metab. 2010;100 Suppl 1:S37-41. Epub 2010 Feb 26.

Ficicioglu C, Coughlin CR 2nd, Bennett MJ, Yudkoff M. Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. J Pediatr. 2010 Mar;156(3):492-4. Epub 2010 Jan 8.