Mitochondrial disease

What is mitochondrial disease?

Mitochondrial disease is not a single disorder but an umbrella term for dozens of individual disorders in which the body’s cells have problems producing energy. Together, these disorders affect between 1 in 6,000 and 1 in 8,000 live births, making mitochondrial disease almost as common as childhood cancer. Individually though, these conditions are very rare. Mitochondrial disorders are frequently called mitochondrial encephalomyopathies and include the following conditions, as well as many others:

  • 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 syndrome
  • disorders of pyruvate metabolism, such as pyruvate dehydrogenase deficiency
  • disorders of the Krebs cycle

Mitochondrial disorders are genetic and sometimes run in families. They can cause a wide range of symptoms, from developmental delay and hearing loss to seizures, strokes, heart failure and diabetes, in differing combinations. Multi-organ involvement is typical for these disorders. Disease can range from severe, starting at birth, to mild disease that doesn’t become apparent until adulthood. Sometimes it can appear abruptly when the child is challenged by another illness.

There is currently no cure for mitochondrial disease. Treatment consists mainly of supportive therapy along with some vitamins and supplements. Treatments are individualized depending on which mitochondrial disorder and what symptoms a child has. Since children with mitochondrial disease are very sensitive to even minor illnesses and other stressors, it is important to keep close tabs on your child's overall health and work closely with specialists to ensure the best care for the "whole child.”

For more about how we manage mitochondrial disease at Boston Children’s, visit the Mitochondrial Program page.