Current Environment:

Boston Children's Hospital's Mitochondrial Program has extensive experience diagnosing and treating children with suspected mitochondrial disorders. Led by pediatric neurologist Irina Anselm, MD, who has cared for children with mitochondrial disease for more than a decade, we work with families to develop a customized care plan.

Since children with mitochondrial disease have a wide range of symptoms, we work closely with experts from many other specialties, including Cardiology, Gastroenterology, and Ophthalmology. We also work closely with our Neurometabolic Program, housed within the Department of Neurology. Children referred to this program see Dr. Anselm and Gerard Berry, MD, director of the Metabolism Program, together on the same day.

The more precisely we can diagnose your child’s condition, the better able we are to customize care. We collaborate closely with the Division of Genetics and Genomics, allowing us to offer the most up to date genetic testing. Our genetic counselor specializes in mitochondrial disorders and is available to guide families through the testing process.

Because children with mitochondrial disease are very sensitive to even minor illnesses and stressors, we keep close tabs on our patients’ overall health. We will help to coordinate any additional tests 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.

Mitochondrial disorders we treat

This is only a partial list — we see many other mitochondrial conditions in our clinic.

  • Kearns-Sayre syndrome
  • Leigh's disease
  • 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

Read more on our mitochondrial disease page and frequently asked questions section.