Medical Information

Mitochondrial disease is the name given to a group of over 100 genetic disorders that impair mitochondrial function & produce clinical disability.   At present, there is no cure, treatment is limited, and the diagnosis is difficult, costly & often missed.


Mitochondria are specialized organelles present in every one of our cells, except red blood cells. They are responsible for creating more than 90% of the energy needed by our cells to sustain life and support growth, and they play a central role in a number of other vital cellular tasks.  When they fail, less and less energy is produced until cell injury and then cell death occurs.  When this process is repeated throughout the body, whole organ systems begin to fail until eventually our very lives are compromised.


Diseases of the mitochondria tend to affect most the cells where energy demand is greatest, namely the cells in the brain, heart, liver, skeletal muscles, kidneys and endocrine and respiratory systems.


Depending on which cells are affected, 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.


This confusing and variable array of symptoms in large part explains why mitochondrial diseases to date have been so often misdiagnosed, even by experienced clinicians.


The information in the following section is targeted to General Practitioners or those requiring a more in depth understanding of mitochondrial disease.