William Rhead, MD, PHD

Position title: Clinical Geneticist

William Rhead’s interest is in caring for children and adults with genetic and metabolic diseases and he hopes to provide them with the best care they can obtain anywhere in the country. His areas of interest include the fatty acid oxidation diseases and the mitochondrial electron transport chain defects.

Board Certification Clinical Genetics
Board Certification Clinical Biochemical Genetics
Board Certification Pediatrics
Medical School University of California, San Diego School of Medicine, La Jolla, CA

Diaz GA, Schulze A, Longo N, Rhead W, Feigenbaum A, Wong D, Merritt JL 2nd, Berquist W, Gallagher RC, Bartholomew D, McCandless SE, Smith WE, Harding CO, Zori R, Lichter-Konecki U, Vockley J, Canavan C, Vescio T, Holt RJ, Berry SA. (2019). Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. Molecular Genetics and Metabolism, 127(4):336-345. doi: 10.1016/j.ymgme.2019.07.004.
Farooq S, Hiner BC, Rhead WJ, Kirschner AL, Chelimsky TC. (2016). Characteristic Pulvinar Sign in Pseudo-α-galactosidase Deficiency Syndrome. JAMA Neurology, 73(8):1020-1. doi: 10.1001/jamaneurol.2016.0268.
Smith L, Rhead W, Charrow J, Shankar SP, Bavdekar A, Longo N, Mardach R, Harmatz P, Hangartner T, Lee HM, Crombez E, Pastores GM. (2016). Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase. Molecular Genetics and Metabolism, 117(2):164-71. doi: 10.1016/j.ymgme.2015.05.012.
Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley J, Longo N, et al. (2016). Glutamine and hyperammonemic crises in patients with urea cycle disorders. Molecular Genetics and Metabolism, 117(1):27-32. doi: 10.1016/j.ymgme.2015.11.005.