Marc Yudkoff M.D.

I am a pediatrician with an interest in inherited disorders of amino acid and ammonia metabolism. These disorders alter brain function and, if untreated, cause brain injury. My goal is to understand the mechanisms responsible for such damage and to develop novel treatments such as gene therapy, which may restore specific enzymes to children who congenitally lack them.

 

To this end, I study both cultured brain cells and children with congenital disorders. The aim of my cultured cell work is to understand how the brain produces and consumes glutamic acid, the linchpin of all brain amino acid metabolism and the most important excitatory neurotransmitter in the nervous system. I am also studying children with ornithine transcarbamylase deficiency to measure, both before and after gene replacement therapy, the rate of production of urea from ammonia.

Caldovic L, Morizono H, Daikhin Y, Nissim I, McCarter RJ, Yudkoff M, Tuchman M.; Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. J Pediatr. 2004 Oct;145(4):552-4.

 

Yudkoff M, Daikhin Y, Nissim I, Horyn O, Lazarow A, Nissim I.; Metabolism of brain amino acids following pentylenetetrazole treatment. Epilepsy Res. 2003 Feb;53(1-2):151-62.

 

Yudkoff M, Daikhin Y, Nissim I, Lazarow A, Horyn O, Nissim I.; The ketogenic diet and brain nitrogen metabolism. J Neurochem 2003;85:62.