Ontology highlight
ABSTRACT:
SUBMITTER: Koessler M
PROVIDER: S-EPMC7802623 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
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]