Salvatore DiMauro

Salvatore DiMauro, M.D., was born in Verona, Italy, November 14, 1939, graduated in medicine from the University of Padua in 1963 and completed his residency in neurology in 1966.

He then completed a postdoctoral fellowship in the Department of Neurology at the University of Pennsylvania.

His research focuses on genetic errors of energy metabolism and he defines disease entities using both biochemical and molecular approaches.

As an "enzyme defect hunter", DiMauro has documented the molecular basis of many enzyme deficiencies, including carnitine palmitoyltransferase deficiency, the first error of fatty acid oxidation to be recognized in humans.

[1] He is a Professor of Neurology at Columbia University, director of the H. Houston Merritt Clinical Research Center for Muscular Dystrophy [2] and Associate Chair of Related Diseases for Laboratory Research and Training.