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Mitochondrial Disease

Overview

Mitochondrial disease- A mitochondrion (singular of mitochondria) is part of every cell in the body that contains genetic material. Mitochondria are responsible for processing oxygen and converting substances from the foods we eat into energy for essential cell functions. Mitochondria produce energy in the form of adenosine triphosphate (ATP), which is then transported to the cytoplasm of a cell for use in numerous cell functions. The process of converting food and oxygen (fuel) into energy requires hundreds of chemical reactions, and each chemical reaction must run almost perfectly in order to have a continuous supply of energy. When one or more components of these chemical reactions does not run perfectly, there is an energy crisis, and the cells cannot function normally. As a result, the incompletely burned food might accumulate as poison inside the body. This poison can stop other chemical reactions that are important for the cells to survive, making the energy crisis even worse. in addition, these poisons can act as free radicals (reactive substances that readily form harmful compounds with other molecules) that can damage the mitochondria over time causing damage that cannot be reversed. Unlike nuclear DNA, mitochondrial DNA has very limited repair abilities and almost no protective capacity to shield the mitochondria from free radical damage.

Symptoms

The types of mitochondrial diseases are categorized according to the organ systems affected and symptoms present. Mitochondrial diseases might affect the cells of the brain, nerves (including the nerves to the stomach and intestines), muscles, kidneys, heart, liver, eyes, ears, or pancreas. In some patients only one organ is affected while in other patients, all organs are involved. Depending on how severe the mitochondrial disorder is, the illness can range in severity from mild to fatal.

Depending on which cells of the body are affected, symptoms may include:

  • Poor growth
  • Loss of muscle coordination, muscle weakness
  • Visual and/or hearing problems
  • Developmental delays, learning disabilities
  • Mental retardation
  • Heart, liver, or kidney disease
  • Gastrointestinal disorders, severe constipation
  • Respiratory disorders
  • Diabetes
  • Increased risk of infection
  • Neurological problems, seizures
  • Thyroid dysfunction
  • Dementia (mental disorder characterized by confusion, disorientation, and memory loss)

Treatment

There are no cures for mitochondrial diseases, but treatment can help reduce symptoms, delay or prevent the progression of the disease. Treatment is individualized for each patient as doctors specializing in metabolic disease have found that every child and adult is “biochemically different.” That means that no two people will respond to a particular treatment in a specific way even if they have the same disease. Certain vitamin and enzyme therapies along with occupational and physical therapy might be helpful for some patients.

Vitamins and supplements prescribed may include:

  • Co-enzyme Q10
  • B complex vitamins
  • Vitamin E, lipoic acid, selenium, and other antioxidants
  • L-carnitine
  • Vitamin C and biotin

Other treatments that might be prescribed include:

  • Diet therapy as prescribed by your doctor along with a registered dietitian, may be recommended
  • Anti-oxidant treatments as protective substances are currently being investigated as another potential treatment method.

Important: Specific treatments should always be guided by a metabolic specialist. Patients should not take any of these supplements or try any of the treatments unless prescribed by a doctor. Taking inappropriate supplements or treatments may lead to delays or failure in establishing an accurate diagnosis.

Specialty Care Providers Who Treat This Condition: