General Information About POLG-Related Disorder
Disease Details and Frequently Asked Questions
It is a genetic disease where organs fail and degenerate due to a lack of energy, caused by a defect in the POLG gene responsible for repairing and replicating the DNA of mitochondria (mtDNA), which generate energy for the body's cells.
It is the most severe (and fatal) form of the POLG mutation seen in infants and young children. It presents with a triad of intractable seizures (epilepsy), mental regression, and severe liver failure.
There are milder forms in adults. It manifests as drooping eyelids, paralysis of the eye muscles, numbness in the limbs (neuropathy), muscle wasting, and walking imbalance (ataxia).
Medications containing the active ingredient Valproic Acid (Depakote) must absolutely not be used to stop epileptic seizures seen in patients. In this genetic profile, valproic acid causes the liver to immediately and completely fail, leading to death.
High Lactic Acid levels in the blood and the observation of specific areas of destruction on a Brain MRI raise the suspicion of a mitochondrial disease. A definitive diagnosis is made exclusively through a blood DNA test (genetic analysis) targeting the POLG gene.
There is no cure to repair the genetic damage. Special antiepileptics that do not affect the liver are used to stop the seizures. To somewhat support cellular energy production, special 'mitochondrial cocktails' containing Coenzyme Q10, L-Carnitine, and various vitamins are prescribed.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
