Alpers Syndrome

Alpers Syndrome is a rare genetic disorder that primarily affects the brain and liver, often manifesting in early childhood. It is characterized by progressive neurological decline, seizures, and developmental delays, along with liver dysfunction. In the context of prion diseases, Alpers Syndrome is linked to abnormal protein misfolding, similar to how prions cause diseases like mad cow disease. The underlying issue involves mutations in the POLG gene, which impairs the body's ability to maintain mitochondrial DNA, leading to cell damage and the symptoms associated with the syndrome. Early diagnosis and supportive care are crucial for management.