Mitochondrial encephalomyopathy

Mitochondria are the energy factories of the human body, and cells rely on them to produce energy for their functions. Skeletal muscle and the brain have high energy demands, so they are particularly rich in mitochondria. Mitochondrial encephalomyopathy is a group of diseases caused by mutations in mitochondrial or nuclear genes, leading to impaired mitochondrial structure or function and insufficient adenosine triphosphate (ATP) synthesis. This results in multisystem dysfunction, primarily affecting the central nervous system and muscle tissue.