What is Mitochondrial Disease?

• Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.
• The incidence about 1:3000-4000 individuals in the US. This is similar to the incidence of cystic fibrosis of caucasian births in the U.S.
• There are many forms of mitochondrial disease.
• Mitochondrial disease is inherited in a number of different ways
• Mitochondrial disease presents very differently from individual to individual.
• There may be one individual in a family or many individuals affected over a number of generations.

What are the Symptoms of Mitochondrial Disease?

• The severity of mitochondrial disease symptoms is different from person to person.
• The most common symptoms are:
• Poor Growth
• Loss of muscle coordination, muscle weakness
• Neurological problems, seizures
• Visual and/or hearing problems
• Developmental delays, learning disabilities
• Heart, liver or kidney disease
• Gastrointestinal disorders, severe constipation
• Diabetes
• Increased risk of infection
• Thyroid and/or adrenal dysfunction
• Autonomic dysfunction
• Neuropsychological changes characterized by confusion, disorientation and memory loss.

How common are mitochondrial diseases?

• About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years.
• One thousand to 4,000 children per year in the United Sates are born with a type of mitochondrial disease.
• In adults, many diseases of aging have been found to have defects of mitochondrial function.
• These include, but are not limited to, type 2 diabetes, Parkinson's disease, atherosclerotic heart disease, stroke, Alzheimer's disease, and cancer. In addition, many medicines can injure the mitochondria.