Christina M Peroutka, MD

Christina Marie Peroutka, MD, is a board-certified physician in pediatrics, clinical, general and medical biochemical genetics who specializes in helping infants, children and adults with genetic conditions. She has a particular interest and expertise in inborn errors of metabolism and newborn screening.

Peroutka received her medical degree from the Brody School of Medicine at East Carolina University in Greenville, North Carolina. She completed residency training in pediatrics and genetics at The Johns Hopkins Hospital in Baltimore, Maryland, and a fellowship in medical biochemical genetics at the National Institutes of Health (NIH) in Bethesda, Maryland.

During her residency and fellowship, Peroutka led an electronic medical record (EMR) study to identify patients who are at risk of having a rare metabolic bone condition called hypophosphatasia (HPP), subsequently evaluating at-risk individuals to offer a genetic evaluation, counseling, testing and treatment. She remains interested in research on and management of patients with HPP and follows a large number of patients from the region with this condition.

Peroutka enjoys working with clinical research participants to make new observations and discoveries that can help improve care for patients with rare conditions. She has been involved in bringing new molecular genetic testing methodologies to UVA, especially for patients in the critical care setting. She is the principal investigator at UVA for a number of studies including a drug trial to treat adolescents with phenylketonuria (PKU) and a protocol to help resolve uncertain or nondiagnostic testing for infants with congenital heart disease. She is also interested in medical education and inspiring the next generation of healthcare providers.

Peroutka is a member of the American Academy of Pediatrics, the American College of Medical Genetics and Genomics, and the American Medical Association. She serves as an appointee on the Virginia Rare Disease Council and enjoys volunteering for projects with the Virginia State Newborn Screening Committee.