Current Affiliation: University of California, San Diego, California, USA

Research Area: Inherited disorders of metabolism

 

Dr. William L Nyhan, MD PhD is a professor of pediatric medicine at the University of California, San Diego. Having devoted over fifty years to the study of disorders of metabolism, Dr Nyhan has accrued a large number of awards, including the 1999 Lifetime Achievement Award from the American Academy of Pediatrics and membership in the Instituted of Medicine of the National Academy of Sciences.

 

Dr. Nyhan was an undergraduate at Harvard University from 1943 to 1945. He served in the US Navy from 1944-46. He also served in the US Army from 1951-53. He gained his Ph.D from the University of Illinois in 1958 and his M.D. from the College of Physicians and surgeons, Columbia University in 1949.

 

With over 600 publications to his name, Dr Nyhan’s research has spanned a number of disorders of metabolism, including 4-Hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia and propionic acidemia.

 

Dr. Nyhan is perhaps best known for his role in the discovery of Lesch-Nyhan syndrome in 1964. Lesch-Nyhan syndrome is an X-linked inherited disorder caused by deficient activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), leading to a build-up of uric acid in the body and a syndrome of abnormal neurology and behaviour.

 

Dr. Nyhan also lends his name to Sakati-Nyhan-Tisdale syndrome, also known as acrocephalopolysyndactyly type III, discovered in 1971.

 

Articles by William Nyhan: