Alpers-Huttenlocher syndrome (AHS) is an autosomal recessive disease caused by a mutation in the POLG1 gene, which leads to the reduced functionality of polymerase gamma - a key component of mitochondrial DNA (mtDNA) replication and repair. The brain and liver are the classic organs affected by this disease due to their high energy demand and the proportional need for mitochondria. Decreased mitochondria in these organ systems lead to various symptoms, with seizures and liver failure being the most common. This pathology is a rapidly progressive disease that presents early in life and invariably ends in a fatality.
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