Mitochondrial Diseases

08/24/2016 05:35 PM EDT

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Visit the new MedlinePlus Health Topic page on Mitochondrial Diseases.

Mitochondrial diseases are a group of metabolic disorders. Mitochondria are small structures that produce energy in almost all of your cells...

Photograph of a doctor talking to a patient

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Antimitochondrial antibody

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Summary

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.

Mitochondrial diseases are a group of metabolic disorders. Mitochondria are small structures that produce energy in almost all of your cells. They make it by combining oxygen with the fuel molecules (sugars and fats) that come from your food. When the mitochondria are defective, the cells do not have enough energy. The unused oxygen and fuel molecules build up in the cells and cause damage.

The symptoms of mitochondrial disease can vary. It depends on how many mitochondria are defective, and where they are in the body. Sometimes only one organ, tissue, or cell type is affected. But often the problem affects many of them. Muscle and nerve cells have especially high energy needs, so muscular and neurological problems are common. The diseases range from mild to severe. Some types can be fatal.

Genetic mutations cause these diseases. They usually happen before age 20, and some are more common in infants. There are no cures for these diseases, but treatments may help with symptoms and slow down the disease. They may include physical therapy, vitamins and supplements, special diets, and medicines.

Start Here

Mitochondrial Myopathies (Muscular Dystrophy Association) - PDFAlso in Spanish
Mitochondrial Myopathy (National Institute of Neurological Disorders and Stroke)
Mitochondrial Myopathy (National Institute of Neurological Disorders and Stroke) - Short Summary
What Is Mitochondrial Disease? (United Mitochondrial Disease Foundation)

Symptoms

Mitochondrial Disease: Possible Symptoms (United Mitochondrial Disease Foundation)

Related Issues

Autism Spectrum Disorder and Mitochondrial Disease (Centers for Disease Control and Prevention)

Specifics

Alpers' Disease (National Institute of Neurological Disorders and Stroke)
Barth Syndrome (BTHS) (National Institute of Neurological Disorders and Stroke)
Mitochondrial Toxicity (New Mexico AIDS Education and Training Center)Also in Spanish
Overview of Barth Syndrome (Barth Syndrome Foundation)