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One of the Yudkoff Lab's major research achievements is 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 (known as 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 developed in the Yudkoff Lab 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.
The Yudkoff Lab has 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. The lab team’s 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.
Marc Yudkoff, MD
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.