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All Diseases > Complex V Deficiency
Complex V Deficiency
Alternative Names: Adenosine Triphosphate Synthase Deficiency (ATP Synthase Deficiency)
Disease Category: Mitochondrial Disorders
An inherited, multisystemic, mitochondrial disorder characterized by protein complex V deficiency. Defects of this protein complex (structure made up of multiple proteins) disrupts the last step of oxidative phosphorylation, the process by which mitochondria (specialized cell structures) produce most of the body's energy. Signs include Leigh syndrome, feeding difficulty, extreme fatigue, hypotonia (low muscle tone), developmental delay, lactic acidosis (high blood lactate levels), encephalopathy (brain disease), hypertrophic cardiomyopathy (heart muscle thickening), heart failure, ataxia (lack of coordination), weakness, vision loss, and nerve damage.
Research groups studying this disease
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.