Clinical Genomics

Mayo Clinic's Mitochondrial Disease Clinic is staffed by a specialized geneticist, genetic counselor and nursing-care team. It coordinates with multiple specialties and genetic laboratories.

Mitochondria are specialized compartments within your body's cells that are responsible for creating most of the body's energy. Mitochondrial disease results from failure of mitochondria to function properly. This can lead to less energy, cell injury and cell death. The most common organs that may experience damage are the brain, heart, liver, muscles, kidneys and the endocrine system.

Mitochondrial diseases present from early childhood to adulthood. Depending on the specific type of mitochondrial disease, common symptoms include muscle weakness, imbalance, gastrointestinal problems, poor growth, liver disease, heart disease, diabetes, visual and hearing issues, lactic acidosis, and developmental delays. Mitochondrial disease may be inherited.

Specialists in the Mitochondrial Disease Clinic evaluate many types of mitochondrial diseases.

• Alpers progressive sclerosing poliodystrophy (Alpers disease).
• Barth syndrome.
• Chronic progressive external ophthalmoplegia (CPEO).
• Dominant optic atrophy.
• Friedreich's ataxia.
• Hereditary paraganglioma.
• Hereditary spastic paraplegia.
• Kearns-Sayre syndrome.
• Leber hereditary optic neuropathy.
• Leigh and Leigh-like syndrome.
• Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS).
• Myoclonic epilepsy with ragged red fibers (MERRF).
• Neuropathy, ataxia and retinitis pigmentosa (NARP).
• Pearson syndrome.
• Wolfram syndrome.

Patients seen in our Mitochondrial Disease Clinic also have the opportunity to participate in the North American Mitochondrial Disease Consortium.