Stephen G. Kahler, MD 

UK Pediatric Specialty Clinic

Dr. Kahler received his MD degree from Duke, trained in Pe­diatrics at UCSD (where he learned about inborn errors from Dr. Bill Nyhan), then trained in clinical and biochemical genet­ics at UNC-Chapel Hill. Throughout his career he has been a clinician-educator, seeing patients and teaching, but he has always had strong affiliations with research physicians and sci­entists. He worked at Duke from 1983-1997, in the division of Genetics and Metabolism directed by Dr. Roe. He was part of the team there that developed what is now called expanded newborn screening, with funding obtained from the state of North Carolina.

He moved to Melbourne, Australia to direct the Victorian Clinical Genetic Services in 1998, returned to the US (Johns Hopkins) in 2003, and moved to Arkansas in 2005, where he succeeded Dr. Gibson. He has served on newborn screening advisory committees in five states. He has been interested in autism for many years, particularly the children who are responsive to diet changes, as they are similar in this way to children with defined inborn metabolic errors.

There are also many children with these inborn errors who have features of autism. In Arkansas he helped found the Autism Specialty Clinic, devoted to metabolic, intestinal, and neuro­logic aspects of autism, where he worked with Dr. Richard Frye (neurology). Investigations in that clinic included studying the mitochondrial dysfunction and oxidative stress that many of these children have. Dr. Kahler and Dr. Frye also had a clinic dedicated to mitochondrial dysfunction. They worked closely with Jill James, PhD, on biochemical aspects of autism, partic­ularly involving vitamin B12, folate, and glutathione. Dr. Kahler has written many articles and book chapters on genetic and metabolic disorders, and newborn screening.

He has served as a medical advisor to many support organizations, including the FOD and OAA groups.


UK Pediatric Specialty Clinic
740 S. Limestone
Second Floor, Wing D, Room J201
Lexington, KY 40536

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