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Mitochondrial diseases are a group of heterogeneous disorders caused by genetic defects in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). The primary pathological feature is impaired mitochondrial metabolic enzyme function, leading to a disruption in adenosine triphosphate (ATP) synthesis and resulting in insufficient cellular energy supply. Dysfunction is especially pronounced in organs with high energy demands, such as the brain, heart, and skeletal muscles.

Epidemiological studies indicate that the overall prevalence of mitochondrial diseases is approximately 1 in 5,000 live births. However, adult-onset forms of the disease may result in an even higher total prevalence.

Mitochondrial diseases vary widely in classification and clinical presentation. There is currently no cure, and clinical management focuses primarily on improving energy metabolism and alleviating symptoms.

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