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Mitochondrial Information

What is a Mitochondrial Disease?

Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.

Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the 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.

Problems Associated with Mitochondrial Disorders

Organ System	Possible Problems
Brain	Developmental delays, mental retardation, dementia, seizures, neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes.
Nerves	Weakness (which may be intermittent), neuropathic pain, absent reflexes, gastrointestinal problem (gastroesophogeal reflux, delayed gastric emptying, constipation, pseudo-obstruction), fainting, absent or excessive sweating resulting in temperature regulation problems.
Muscles	Weakness, hypotonia, cramping, muscle pain.
Kidneys	Proximal renal tubular wasting resulting in loss of protein, magnesium, phosphorous, calcium and other electrolytes.
Heart	Cardiac conduction defects (heart blocks), cardiomyopathy.
Liver	Hypoglycemia (low blood sugar), liver failure.
Eyes	Visual loss and blindness.
Ears	Hearing loss and deafness.
Pancreas	Diabetes and exocrine pancreatic failure (inability to make digestive enzymes).
Systemic	Failure to gain weight, short statue, fatigue, respiratory problems including intermittent air hunger.