Mitochondrial disorders are a complex group of genetic conditions involving mitochondria. Mitochondria act as tiny "power plants" for the cells in our bodies. They are present in all our cells, producing the energy we need to live and grow.
When the mitochondria don't work properly, many organs and systems in the body can be affected. Affected body parts can include the brain, heart, eyes, and muscles.
The Mitochondrial Disorders Program within the Division of Genetic and Genomic Medicine provides children with mitochondrial disorders with testing specific to their disorder. We work closely with the team in the Center for Rare Disease Therapy to create an individualized treatment plan for your child's mitochondrial disorder.
Looking for Mitochondrial Disorders Care?
Contact us by phone at 412-692-5070 or email us at MitoMed@chp.edu.
This clinic is led by Dr. Uta Lichter-Konecki, MD, PhD, clinical director of Mitochondrial Disorders, and Sarah Williams, MS, CGC, clinical coordinator.
What Are Mitochondrial Disorders?
Mitochondrial disorders are a complex group of inherited conditions that involve the mitochondria. Mitochondria are present in all our cells and produce energy that we need to live and grow. They work as microscopic “power plants” for the cells.
When the mitochondria don’t work properly, many organs and systems in the body can be affected, such as the brain, heart, eyes, or muscles. People with mitochondria disorders may have seizures, hearing loss, strokes, diabetes, and other serious health conditions.
The Mitochondrial Disorders Clinic provides evaluation, diagnosis, treatment, management, and genetic counseling to patients with known or suspected mitochondrial disorders.
All new patients require a referral from your or your child’s primary care provider or other treating physician. Additionally, we will request copies of your medical records in advance, such as specialist evaluations, genetic test results, laboratory studies, and imaging studies.
For a complete list of records, please refer to the Mitochondrial Evaluation document.
What Can I Expect at An Appointment?
You or your child will have a complete assessment by a geneticist who is trained in mitochondrial disorders. Other experts who might see you or your child during this visit include a genetic counselor, metabolic nurse, and/or a metabolic dietitian.
The team will review your or your child’s medical records, collect a detailed family history, perform a physical exam, and provide genetic counseling. The team will also answer any questions that you have.
Afterward, the team will review their plan with you and discuss available testing options. Your provider may recommend genetic testing, laboratory or imaging studies, or referrals to additional specialists as part of the evaluation. Appointments can vary in length and may take up to three hours.
What Should I Bring to the Appointment?
Mitochondrial disease evaluations are thorough and detailed medical visits that may run two to three hours in length.
For your scheduled appointment, bring any medical supplies, medication, snacks, drinks, and toys or entertainment you or your child may need during your visit with us. Please bring your insurance card and copayment. We accept most insurance plans.
What Are Next Steps After the Appointment?
Members of your or your child's mitochondrial disorder care team will talk with you about possible next steps, such as genetic testing and/or treatment options. If genetic testing is recommended, it will typically not be completed the same day as your initial visit.
Most genetic tests require insurance authorization, a process that can take several weeks to months to complete. After receiving insurance approval, someone from the genetics team will contact you with next steps in the sample collection process. Your provider may also recommend laboratory studies or other tests as part of your or your child’s evaluation.
You can manage your or your child’s care online by signing up for the patient portal. With the patient portal, you can send messages to your health care team, view or schedule appointments, view test results, and more. It's free for patients of UPMC Children's Hospital and their parents and guardians.
Why Choose UPMC?
Under the direction of Dr. Uta Lichter-Konecki, MD, PhD, UPMC Children’s Hospital of Pittsburgh is a certified Mitochondrial Medicine Center and a member of the Mitochondrial Care Network (MCN).
The MCN is a national organization of mitochondrial experts and patient advocacy groups that works to:
- Define, design, and apply best practices in mitochondrial medicine.
- Formally unite doctors who provide medical care to people with mitochondrial disease.
- Improve the management and care for people with these diseases.
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.
