What is mitochondrial disease?

Mitochondrial disease refers to a group of disorders that affect the mitochondria, which are tiny compartments that are present in almost every cell of the body. The mitochondria’s main function is to produce energy. More mitochondria are needed to make more energy, particularly in high-energy demand organs such as the heart, muscles and brain. When the number or function of mitochondria in the cell are disrupted, less energy is produced and organ dysfunction results.

Depending on which cells within the body have disrupted mitochondria, different symptoms may occur. Mitochondrial disease can cause a vast array of health concerns, including fatigue, weakness, metabolic strokes, seizures, cardiomyopathy, arrhythmias, developmental or cognitive disabilities, diabetes mellitus, impairment of hearing, vision, growth, liver, gastrointestinal, or kidney function, and more. These symptoms can present at any age from infancy up until late adulthood.

Treatment

Currently there is no highly effective treatment or cure for mitochondrial disease. The management of mitochondrial disease is supportive therapy, which may include nutritional management, exercise and/or vitamin or amino acid supplements.

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

Our team will provide relevant mitochondrial disease counseling based on your child’s diagnosis, including an overview of mitochondrial disease features and genetics. Your child’s neurologist or primary care physician will manage the day-to-day medical concerns associated with mitochondrial disease.

Long-term care may involve a variety of specialists, including neurologists, endocrinologists, ophthalmologists, audiologists, cardiologists and nephrologists.

For patients with mitochondrial disease with no known genetic cause, yearly follow-up appointments are typically recommended as mutations in new genes causing mitochondrial disease are discovered all the time.