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Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation.


ABSTRACT: We present a 16-year-old female patient with POLG syndrome, treated with ketogenic diet after she presented with refractory status epilepticus. Initially, benefit of the ketogenic diet could be seen, but the outcome was fatal, with death 3?months after presenting symptoms. Additionally, we give a literature review of the utility of ketogenic diet in patients with POLG disease.

SUBMITTER: Koessler M 

PROVIDER: S-EPMC7802623 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Ketogenic diet in a patient with refractory status epilepticus due to <i>POLG</i> mutation.

Koessler Miriam M   Haberlandt Edda E   Karall Daniela D   Baumann Matthias M   Höller Alexander A   Scholl-Bürgi Sabine S  

JIMD reports 20201001 1


We present a 16-year-old female patient with <i>POLG</i> syndrome, treated with ketogenic diet after she presented with refractory status epilepticus. Initially, benefit of the ketogenic diet could be seen, but the outcome was fatal, with death 3 months after presenting symptoms. Additionally, we give a literature review of the utility of ketogenic diet in patients with <i>POLG</i> disease. ...[more]

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