Mitochondrial Medicine Program
The Mitochondrial Medicine Program at Children's Hospital of Philadelphia (CHOP) has emerged as the world's premiere center dedicated to improving the health of patients – of all ages – living with mitochondrial disease. We focus on finding the underlying causes of mitochondrial conditions and developing ways to treat or manage them.
Mitochondria function as batteries that produce energy in our body's cells. When cells have low-functioning mitochondria, it can cause a range of health problems and can affect any part of the body. The causes of mitochondrial disease have been linked to nearly 300 genes.
CHOP offers multidisciplinary clinical care, advanced diagnostics and therapies to patients and families. Our cutting-edge research is designed to forge new discoveries, deliver novel therapies and improve the health of patients with mitochondrial disease.
How we serve you
Integrated diagnostic tests developed at CHOP can provide definitive diagnosis, leading to better treatments. New discoveries are happening every day to create additional methods to diagnose mitochondrial disease. View our advanced tests.
Conditions we treat
We evaluate and treat children with all types of mitochondrial disease, including those listed below.
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Mitochondrial disease -
Mitochondrial depletion syndrome -
Mitochondrial diabetes -
Mitochondrial DNA deletion syndromes -
Mitochondrial myopathy -
Mitochondrial respiratory disorders -
Infections and immune function in mitochondrial diseases -
Mitochondrial DNA common mutation syndromes -
Mitochondrial retinal disease and optic neuropathy
Why choose Mitochondrial Medicine
We offer access to the nation’s top pediatric specialists across the many clinical areas that may be part of your child’s care. We evaluate patients and provide a coordinated approach to best support your family.
Meet your team
Our team of world-renowned experts are focused on determining the best course of treatment for each patient while working with your primary care physician, neurologist and other specialists.
Our locations
You can visit staff from the Mitochondrial Medicine Program at two locations on our Philadelphia campus.
Our research
CHOP is a powerful hub for research on mitochondria, the power plants of the cell. Researchers collaborate to better understand how mitochondria energy production relates to specific conditions and potential new approaches for treatment.
Mito family resources
Caring for a sick child can be overwhelming. We have created resources to help you find answers to your questions and feel confident in the care you are providing your child.
Resources for professionals
Everything you need to support your patient’s health, created and updated by our CHOP community of experts.
Patient stories
What to expect
Before an appointment with Mitochondrial Medicine, we need to review your child's medical records. Learn what to send, when to contact your insurance company, and what to expect at your appointment and after your visit.
CHOP Researchers Develop Method for Integrating Patient-Reported Outcomes for Patients with Primary Mitochondrial Disease
The findings also found that older patients with primary mitochondrial disease have a lower quality of life than pediatric patients with the same disease.
Web-Based Resource Provides Precise Classification of Dual Genome Variants of Primary Mitochondrial Disease
Quick-Mitome, developed by an international consortium of mitochondrial disease specialists, is available for non-commercial, non-clinical research.
Your donation changes lives
Philanthropic donations fuel breakthrough discoveries and pioneering treatments for children and adults with mitochondrial diseases.
