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Alpers disease is commonly associated with polymerase γ deficiency and usually affects infants or young children.
To report a juvenile case of Alpers disease due to mutations in the polymerase γ gene (POLG1).
Clinical, pathologic, biochemical, and molecular analysis.
Tertiary care university hospital and academic institutions.
A 17-year-old adolescent girl with intractable epilepsy and liver disease.
Main Outcome Measures
Clinical course and pathologic, biochemical, and molecular features.
Biochemical and pathologic evidence suggested a respiratory chain defect, which was confirmed by enzyme analysis of the liver. Mutational analysis of POLG1 showed 2 novel mutations: T851A and R1047W.
The POLG1 mutations can cause juvenile and childhood Alpers disease.
Wiltshire E, Davidzon G, DiMauro S, et al. Juvenile Alpers Disease. Arch Neurol. 2008;65(1):121–124. doi:10.1001/archneurol.2007.14
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