In simple words: Mitochondrial disorders are inherited conditions that affect the parts of your cells that produce energy (mitochondria). This can cause problems in organs that need a lot of energy, such as the brain, nerves, and muscles.

Mitochondrial metabolism disorders refer to a group of inherited disorders caused by mutations in mitochondrial DNA. These mutations impair mitochondrial function, impacting organs with high energy requirements, primarily the brain, nerves, and muscles.

Example 1: A 5-year-old child presents with developmental delays, muscle weakness, and seizures. Genetic testing confirms a diagnosis of MELAS syndrome, a type of mitochondrial metabolism disorder., A 30-year-old adult experiences progressive vision loss, muscle spasms, and difficulty coordinating movements. A muscle biopsy and genetic testing reveal MERRF syndrome, another form of mitochondrial metabolism disorder., An infant exhibits failure to thrive, hypotonia, and lactic acidosis. Biochemical and genetic testing confirms a mitochondrial disorder affecting oxidative phosphorylation.

Thorough documentation of clinical findings, family history, laboratory results (including metabolic screening, muscle biopsy, and genetic testing), and specialist consultations is crucial for accurate diagnosis and coding.

** Although there is no cure for mitochondrial disorders, treatment focuses on managing symptoms, slowing disease progression, and improving quality of life. This may involve nutritional therapies, vitamin supplements, medications, and physical therapy.