OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA

This entry refers to a group of mitochondrial disorders caused by problems with how mitochondrial DNA (mtDNA) is read and used to make proteins. Mitochondria are tiny structures inside nearly every cell in your body that produce energy, much like power plants. For mitochondria to work properly, their own small set of DNA must be correctly copied (transcribed) and translated into proteins. When there are defects in this process, the mitochondria cannot produce enough energy, and this leads to disease. Please note that this specific Orphanet classification (ORPHA:309139) is now marked as 'OBSOLETE,' meaning it has been retired or reorganized into more specific disease categories. However, the underlying conditions it described are very real and still actively studied and treated. Symptoms of mitochondrial transcription or translation defects can vary widely but often affect organs that need the most energy, such as the brain, muscles, heart, and liver. Common problems include muscle weakness, developmental delays, seizures, hearing loss, vision problems, and poor growth. Some patients experience episodes of worsening symptoms during illness or stress, known as metabolic crises. The severity ranges from mild symptoms appearing in adulthood to severe, life-threatening disease in newborns. There is currently no cure for these conditions. Treatment focuses on managing symptoms, supporting energy production with supplements like coenzyme Q10 and certain vitamins, and preventing metabolic crises. Research into gene therapy and other advanced treatments is ongoing and offers hope for the future.

Bring these to your next appointment

• Q1.What specific genetic defect is causing my (or my child's) condition, and what does it mean for prognosis?,Which organs should be monitored regularly, and how often should screening tests be done?,What supplements or medications are recommended, and what is the evidence behind them?,Are there any medications, anesthetics, or activities we should avoid?,What should we do during an illness or if we suspect a metabolic crisis?,Are there any clinical trials or emerging therapies we should know about?,Should other family members be tested, and what are the chances of this condition occurring in future children?

Common questions about OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA

Related conditions

Other rare diseases commonly researched alongside OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA.

• Leigh syndrome→
• Mitochondrial DNA depletion syndrome→