Mitochondrial-Genetic Disease Clinic | The Children's Hospital of Philadelphia

Metabolic Disease

Mitochondrial-Genetic Disease Clinic

The Mitochondrial-Genetic Disease Clinic provides dedicated clinical care for children and adults with mitochondrial disease, a diverse set of difficult-to-treat genetic-based energy disorders.

We focus on finding the underlying cause of your or your child’s condition, knowledge that will help us determine the best course of treatment for each individual patient while working in collaboration with your primary care physician, neurologist, and other specialists.

Who you’ll meet

Contact us

The Mitochondrial-Genetic Disease Clinic is located in the Richard D. Wood Pediatric Ambulatory Care Center (Wood Center) at the Main Campus of The Children’s Hospital of Philadelphia.

If you are interested in making an appointment or learning more about the care we provide, you can contact us via email or call 215-590-3376 and we will be happy to answer your questions.

What is mitochondrial disease?

Mitochondria are the power plants of the human cell and use oxygen to create energy from the food we eat. They produce about 90 percent of the energy the body uses.

Dysfunctional mitochondria fail to produce enough energy for cell function and can cause the body to have a “power shortage.” This shortage can affect organ function in any system of the body. As a result, mitochondrial disease takes many forms and is difficult to diagnose.

Symptoms of mitochondrial disease include:

Causes

Mitochondria are unique in that they have their own DNA called mtDNA. Mutations in this mtDNA, mutations in nuclear DNA (DNA found in the nucleus of a cell) or a combination of both types of mutations can cause mitochondrial disease. Environmental toxins can also trigger mitochondrial disease.

Treatment approach

Currently there is no highly effective treatment or cure for mitochondrial disease, although medication and vitamin or amino acid supplements can be taken to delay or prevent progression of the disease.

Knowing the underlying cause of your or your child’s condition will help your medical team determine the best course of treatment. Our Clinic works closely with your primary care physician, neurologist, and other specialists to manage your day-to-day medical needs.

Why choose us

If you come to the Mitochondrial-Genetic Disease Clinic, you will have access to the nation’s top pediatric subspecialists across the many clinical areas that may be part of your or your child’s care.

Researchers and clinicians at The Children’s Hospital of Philadelphia are committed to 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.

Learn about some of our recent work dedicated to advancing diagnostics and treatment options for patients with these complex, difficult-to-treat disorders.

 

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