Description

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure. The incidence of AHS is estimated to be between 1/100,000 and 1/250,000. Development is usually normal until disease onset and presentations are highly variable. AHS is due to mutations in the polymerase gamma (POLG) gene (15q24). This gene encodes DNA polymerase subunit gamma-1, which is involved in the replication and repair of mtDNA.

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