Mitochondria function as the batteries to produce energy in the body’s cells. Depending on which cells have low-functioning mitochondria, the disease can cause a wide range of health problems, including fatigue, weakness, exercise intolerance, developmental disabilities, seizures, strokes, vision or hearing loss, growth and feeding difficulties, hormone imbalances, and serious problems with heart, liver or kidney function.

Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. Overall, approximately 1 in every 4,300 individuals in the United States has a mitochondrial disease. Given the various potential presentations that may occur, mitochondrial disease can be difficult to diagnosis and is often misdiagnosed. There are many types of mitochondrial disease, known to result from mutations in nearly 300 different genes. Researchers are still working to identify them and to develop tests for diagnosis and methods for treatment or management.

How CHOP helps

Mitochondrial Medicine focuses on finding the underlying cause of your or your child’s condition. This information helps us determine the best course of treatment for each patient while working in collaboration with your primary care physician, neurologist and other specialists.

At Children’s Hospital of Philadelphia, you will have access to the nation’s top pediatric specialists across the many clinical areas that may be part of your or your child’s care. We embrace a coordinated, multidisciplinary approach to support your family. Our team helps your family navigate the different types of challenges you may face. Our team includes:

• Attending physicians
• Genetic counselors
• Nurse practitioners
• Registered nurses
• Social workers
• Laboratory researchers
• Clinical researchers
• Clinical coordinators

Leaders in research

Researchers and clinicians at CHOP are leaders in advancing understanding of mitochondrial disease. We have a dedicated research team focused on investigating mitochondrial and epigenomic dysfunction in a wide range of clinical problems. There are many types of mitochondrial disease, which are now known to result from mutations in nearly 300 different genes, and researchers are still working to identify them and develop tests for diagnosis.

Research will help us develop effective therapies for patients with various forms of mitochondrial disease, and discoveries may also have applications for other more common conditions in which a failure in mitochondrial functioning plays a role, including Alzheimer’s disease.