Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation. Issue 1 (1st October 2020)

• Record Type: Journal Article
• Authors: Koessler, Miriam; Haberlandt, Edda; Karall, Daniela; Baumann, Matthias; Höller, Alexander; Scholl‐Bürgi, Sabine
• Is Part Of: JIMD reports. Volume 57:Issue 1(2021)
• Page Start: 3
• Page End: 8
• Publication Date: 2020-10-01
• Subjects: ketogenic diet -- POLG mutation -- refractory status epilepticus; Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1002/jmd2.12169
• Languages: English
• ISSNs: 2192-8304

Abstract

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.