mitokondriotaudit
Mitochondrial disorders are a group of rare, inherited metabolic diseases that affect mitochondria, the energy-producing powerhouses within cells. These disorders arise from mutations in either the mitochondrial DNA (mtDNA) or nuclear DNA that encodes mitochondrial proteins. Mitochondria are responsible for cellular respiration, converting nutrients into adenosine triphosphate (ATP), the main energy currency of the body. When mitochondria malfunction, cells cannot produce enough energy, leading to a wide range of symptoms that can affect virtually any organ system.
The clinical presentation of mitochondrial disorders is highly variable, making diagnosis challenging. Symptoms often depend on