MITOCHONDRIAL DISORDERS

Mitochondrial disorders are defined as diseases that have a defect in mitochondrial metabolism. The mitochrondrion is a subcellular organelles with faint, threadlike granules. As a group, mitochondria convert energy from food molecules into adenosine triphosphate (ATP), the main source of energy for most cell functions and manifest through the Krebs citric acid cycle, fatty acid oxidation and oxidative phosphorylation (OXPHOS). OXPHOS is the main source for the formation of ATP. The mitochondrion is also involved in iron metabolism (implicated in Friedreich ataxia), amino acid biosynthesis and apoptosis. A subclass of these disorders, mitochondrial myopathies, is thought to be caused by OXPHOS defects.