Mitochondrial Disorders Program

Mitochondrial disorders are a complex group of genetic conditions involving mitochondria. Mitochondria are present in all our cells and produce energy needed to live and grow. They act like tiny "power plants" for the cell.

When the mitochondria don't work correctly, it affects many organs and systems in the body. This can include the brain, heart, eyes, or muscles.

The Mitochondrial Disorders Program is a program within the Division of Genetic and Genomic Medicine where children with mitochondrial disorders can undergo testing specific to their disorder. We work closely with the team in the Center for Rare Disease Therapy to create a treatment plan for your child's mitochondrial disorder.

Clinical Research Opportunities

The Division of Genetic and Genomic Medicine at UPMC Children's Hospital of Pittsburgh has an active clinical research program. We work with other genetic programs worldwide to test new treatments for genetic diseases. Learn more about our mitochondrial disease clinical research on our clinical studies list.

Contact Us

The clinical director of Mitochondrial Disorders, Dr. Uta Lichter-Konecki, MD, PhD, and clinical coordinator, Sarah Williams, MS, CGC, lead the clinic.

You can contact us by phone at 412-692-5070 or email us at