Mitochondrial Disorders

To find patient care programs and faculty treating mitochondrial disorders at Kennedy Krieger Institute, as well as research investigating this disorder, please see the right-hand column below. Additional helpful information, including definitions, symptoms, Institute press releases, Potential magazine articles, and other resources outside the Institute, have also been provided for readers on this page.

Mitochondrial Disorders Overview:

Mitochondria are specialized compartments found inside every cell of the body, except red blood cells. They are responsible for creating more than 90 percent of the energy needed by the body to sustain life and support growth.

Mitochondrial disorders occur when the mitochondria fail and are not able to produce the energy a cell or tissue needs. This causes cell injury, or even cell death and organ damage. Mitochondrial disorders appear to cause most damage to the brain, heart, liver, skeletal muscles and kidneys -- which are the tissues with the highest demands for energy. The clinical features of mitochondrial disorders can involve only one organ or almost any combination of organ systems. Mitochondrial disorders most often present as muscle weakness with neurological problems, such as seizures, cerebral palsy, movement disorders or neurological deterioration. Other symptoms include heart failure, visual and hearing problems, gastrointestinal disorders, poor growth, liver disease, diabetes, developmental delays and unexpectedly severe reactions to fevers, infections, or immunizations. Mitochondrial disorders may present at any age and, in most cases, affect both sexes equally.

Examples, Subsets and Synonyms for Mitochondrial Disorders:

  • Mitochondrial cardiomyopathies
  • Leigh disease
  • MELAS, MERRF, NARP
  • Barth syndrome