Dr. William Nyhan,
|Occupation||Professor of Pediatrics at UC San Diego School of Medicine|
William Leo Nyhan (born March 13, 1926) is an American physician best known as the co-discoverer of Lesch-Nyhan syndrome.
Nyhan currently serves as professor of pediatrics at UC San Diego School of Medicine in La Jolla, California. He has held positions at Johns Hopkins School of Medicine and the University of Miami Leonard M. Miller School of Medicine and has served on a number of advisory committees, pediatric advisory boards, and research foundation boards.
Nyhan's areas of research span a variety of amino acid metabolism disorders, among them 4-hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia. He has studied the neuropathology of propionic acidemia, including the manifestation of basal ganglia infarction and its neurologic, non-metabolic presentation. Currently, he conducts research into the causes of progressive neurologic disability caused by methylmalonic acidemia following liver transplantation.
He is involved in the ongoing development of tandem mass spectrometry for use in newborn screening and research. In addition, he is investigating the use of dichloroacetate to treat a broad range of mitochondrial diseases that lead to lactic acidemia.
- Lesch M, Nyhan WL (1964). "A familial disorder of uric acid metabolism and central nervous system function". Am. J. Med. 36 (4): 561–70. doi:10.1016/0002-9343(64)90104-4. PMID 14142409.
- Nyhan WL (1997). "The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism" (PDF). J. Inherit. Metab. Dis. 20 (2): 171–8. doi:10.1023/A:1005348504512. PMID 9211189.
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