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Mitochondrial Disorders

Mitochondria are the “power plants” of the cells in your body. They use the fat, sugar and protein in the foods you eat to make the energy your body needs. Mitochondrial disorders are highly variable conditions that occur when this energy cannot be made appropriately.

They tend to most commonly affect organs requiring a great deal of energy. Any organ system can be involved in mitochondrial disorders. Those most often affected are the nervous system and muscles. Some types of muscular dystrophy are mitochondrial in nature. Often, the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems are also affected.

The severity of symptoms, age of onset, number of organ symptoms involved and life expectancy cannot be predicted and may vary considerably, even among affected family members.

Many mitochondrial disorders appear in childhood. Others reveal themselves later in life. These disorders affect one in 2,000 to 4,000 people, according to the United Mitochondrial Disease Foundation. However, due to the difficulty in establishing a definitive diagnosis in many patients, this incidence may be higher. 

Inherited or spontaneous genetic mutations or deletions in either the mitochondria or the portion of the cell containing the majority of the cell’s genetic information, the nucleus, can cause errors in your cells’ energy-producing machinery. 

At Indiana University Health we use a comprehensive approach to diagnosis and treat mitochondrial disorders. We offer the most comprehensive care in the state from geneticists and metabolic physicians to assist children and adults with mitochondrial disorders. Our specialists are highly skilled at determining the proper diagnosis for you or your child’s symptoms.

We work with experts in metabolic genetics at Riley Hospital for Children at Indiana University Health, as well as geneticists at Indiana University School of Medicine Department of Medical and Molecular Genetics. In addition, we are affiliated with specialists who treat neurogenetics disorders at Riley Hospital for Children at IU Health.

When combined, these resources allow access to the many services and specialists required to best diagnose and treat these disorders.

How We Can Help

How We Can Help

Mitochondrial Disorders Treatment Information

IU Health Medical Genetics works with physicians, geneticists, counselors and therapists to deliver holistic care that may include specific dietary supplements, medicines, and speech and physical therapies. These treatments will not reverse the disease process, but they can improve some of the symptoms you or your child may be experiencing.

Mitochondrial Disorders Locations & Physicians

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Mitochondrial Disorders Support Services

Learn more about mitochondrial disorders treatments at these websites: