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All Diseases > Mitochondrial DNA Depletion Syndrome
Mitochondrial DNA Depletion Syndrome
Alternative Names: mtDNA Depletion Syndrome
Disease Category: Mitochondrial Disorders
A term characterizing a group of inherited disorders in which copies of the DNA (genetic material) within mitochondria (specialized cell structures that produce energy) are severely reduced in number. This results in impaired energy production required for proper functioning of the body's tissues and organs. These disorders primarily affect the brain, liver, digestive system, nerves, and skeletal muscles.
Research groups studying this disease
North American Mitochondrial Disease Consortium (NAMDC)View Disease Definition
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.