The Boston Children's Hospital Mitochondrial Program has extensive experience diagnosing and managing children with suspected mitochondrial disorders.
We work with families to provide a precise diagnosis using the most advanced biochemical and molecular clinical testing, and to develop a customized care plan.
Our program is a joint collaboration between the Department of Neurology and Division of Genetics and Genomics to provide a comprehensive evaluation approach. Initial intake to the program includes evaluations in both neurology clinic and metabolism clinic.
Because children with mitochondrial disease have a wide range of symptoms, we collaborate with experts from many other specialties at Boston Children’s Hospital who are world leaders in their respective fields, including Cardiology, Gastroenterology, Orthopedics, Physical Medicine and Rehabilitation, Ophthalmology, and Psychology.
As needed, we also provide specialized consultation within the Department of Neurology for difficult-to-treat movement disorders, neuromuscular conditions, and epilepsy.
Metabolic nutritionists with special expertise in the management of genetic metabolic disorders are also available as needed for specific mitochondrial disorders.
We consult with specialized neuroradiologists who are highly experienced in interpreting neuroimaging abnormalities in children with mitochondrial disorders, which is important for both diagnosis and monitoring.
When children with mitochondrial disorders have associated developmental delay and/or regression, we can also provide formal neuropsychological evaluations by psychologists with specific experience in the evaluation of children with genetic metabolic disorders .
We believe that convenience and excellent coordination of care are important. We will help to coordinate additional referrals, tests, or treatments that your child needs, working with your insurance providers when approvals are required. All testing can be done at Boston Children’s in collaboration with our partner laboratories.
We also provide the opportunity to enroll in research programs, including access to cutting-edge research-based genomic testing in children with symptoms of a mitochondrial disorder without a genetic diagnosis after standard clinical testing.
Because children with mitochondrial disorders are very sensitive to even minor illnesses and stressors, we keep close tabs on our patients’ overall health. Patients who are actively followed by our program have access to phone consultation with an on-call team for urgent concerns 24 hours a day, seven days a week.
Mitochondrial disorders we treat
This is only a partial list — we see many other mitochondrial conditions in our clinic.
- Kearns-Sayre syndrome
- Leigh syndrome
- POLG-related disorders
- MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes)
- MERRF (myoclonic epilepsy with ragged red fibers)
- MNGIE (mitochondrial neurogastrointestinal encephalopathy)
- Pearson marrow pancreas syndrome
- Disorders of pyruvate metabolism, such as pyruvate dehydrogenase deficiency
- Disorders of the Krebs cycle
- Creatine transporter deficiency
