What is Alpers-Huttenlocher Syndrome (AHS)

Alpers-Huttenlocher Syndrome (AHS) is a rare and devastating genetic disorder that primarily affects the brain. It is characterized by a progressive degeneration of the cerebral cortex, leading to severe neurological symptoms. AHS typically manifests in early childhood, with symptoms including seizures, developmental regression, loss of motor skills, and liver dysfunction.

The underlying cause of AHS is mutations in the POLG gene, which is responsible for encoding an enzyme involved in mitochondrial DNA replication. These mutations disrupt the normal functioning of mitochondria, the energy-producing structures within cells, leading to impaired energy production and subsequent brain damage.

AHS is a progressive disorder, meaning that symptoms worsen over time. Unfortunately, there is currently no cure for AHS, and treatment mainly focuses on managing symptoms and providing supportive care. This may involve antiepileptic medications to control seizures, physical and occupational therapy to maintain motor skills, and nutritional support to manage liver dysfunction.

Given the complexity and severity of AHS, it is crucial for affected individuals and their families to receive comprehensive medical and social support. Ongoing research aims to further understand the underlying mechanisms of AHS and develop potential therapeutic interventions.