The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome

Alpers-Huttenlocher syndrome (AHS) is an uncommon autosomal recessive mitochondrial DNA depletion disease. The classic clinical triad of progressive developmental regression, liver degeneration, and seizures helps define the disorder, but a wide range expressions occur. most common mutations in childhood have been identified cytochrome c oxidase Ⅰ Ⅳ genes. 7706G˃A missense mutation Cox Ⅱ gene was previously reported one case after postmortem histological study. Consequently, our patient first diagnosed with AHS while alive. We proposed that rare should be more lethal than other cause syndrome.