What is Mitochondrial Disease?

In short, Mitochondrial Disease is a progressive disorder in which the cells of the body do not make enough energy to sustain bodily functions. Mitochondria are found in every cell of the body except red blood cells and are responsible for creating more than 90% of the energy the body needs to sustain life and promote growth.

When the mitochondria do not work properly, less and less energy is generated and cell injury and death are the end result. When this process is repeated time and again, entire organs and systems throughout the body begin to fail. While mitochondrial disease primarily affects children, adult onset is becoming more common.

Mitochondrial disease causes the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems – those bodily systems that require the most energy to work properly. Those affected with mitochondrial disease cover a wide range from mild symptomology to severely affected to death.

Every case is different as the severity of the disease, the organ systems affected, and the symptoms are dependent on which cells are affected and how many cells are affected. Generally, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection. Some individual suffer all of these symptoms, others only one or two, and the range of severity is very broad.

To learn more, look under THE BASICS on the main page.

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