Metabolism is how the body makes energy from food. Food is made of proteins, carbohydrates and fats. Chemicals in the digestive system, called enzymes, break these down into sugars and acids — the body's fuel — which it can use at once or store in its tissues. In a metabolic disorder, something in this process goes wrong.
What mitochondria do
Mitochondrial diseases are a group of metabolic disorders. Mitochondria are small structures in almost every cell that produce energy by combining oxygen with fuel molecules — sugars and fats — from food.
When mitochondria are defective, cells don't get enough energy. The oxygen and fuel molecules that go unused build up inside the cells and damage them.
Symptoms
Symptoms vary, depending on how many mitochondria are defective and where they are in the body.
- Sometimes only one organ, tissue or type of cell is affected, but often the problem involves many.
- Muscle and nerve cells need especially large amounts of energy, so problems with muscles and the nervous system are common.
- The diseases range from mild to severe, and some types can be fatal.
Causes and who is affected
Genetic mutations cause mitochondrial diseases. They usually begin before the age of 20, and some types are more common in infants.
Treatment
There is no cure, but treatment may ease symptoms and slow the disease. It can include:
- physical therapy;
- vitamins and supplements;
- special diets;
- medicines.
Sources
- MedlinePlus, U.S. National Library of Medicine, "Mitochondrial Diseases." https://medlineplus.gov/mitochondrialdiseases.html
- Rewritten in hubnx's own words.
Licence: CC0 1.0 (public domain) · Adapted from medlineplus.gov
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