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Höller A, Albrecht U, Baumgartner Sigl S, et al. Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C. Mol Genet Metab Rep. 2021;27:100723doi: 10.1016/j.ymgmr.2021.100723.
Höller, A., Albrecht, U., Baumgartner Sigl, S., Zöggeler, T., Ramoser, G., Bernar, B., Karall, D., & Scholl-Bürgi, S. (2021). Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C. Molecular genetics and metabolism reports, 27100723. https://doi.org/10.1016/j.ymgmr.2021.100723
Höller, A, et al. "Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C." Molecular genetics and metabolism reports vol. 27 (2021): 100723. doi: https://doi.org/10.1016/j.ymgmr.2021.100723
Höller A, Albrecht U, Baumgartner Sigl S, Zöggeler T, Ramoser G, Bernar B, Karall D, Scholl-Bürgi S. Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C. Mol Genet Metab Rep. 2021 Feb 05;27:100723. doi: 10.1016/j.ymgmr.2021.100723. eCollection 2021 Jun. PMID: 33598405; PMCID: PMC7868989.
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Mol Genet Metab Rep. 2021 Feb 05;27:100723. doi: 10.1016/j.ymgmr.2021.100723. eCollection 2021 Jun.

Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C.

Molecular genetics and metabolism reports

A Höller, U Albrecht, S Baumgartner Sigl, T Zöggeler, G Ramoser, B Bernar, D Karall, S Scholl-Bürgi

Affiliations

  1. Service for Nutrition and Dietetics, University Hospital Innsbruck, Tyrolean State Hospitals, Austria.
  2. Department of Pediatrics I, Neuropediatrics, Medical University of Innsbruck, Austria.
  3. Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Austria.

PMID: 33598405 PMCID: PMC7868989 DOI: 10.1016/j.ymgmr.2021.100723

Abstract

BACKGROUND: Niemann-Pick disease type C (NP-C) is a neurodegenerative disease for which only palliative treatment exists, and only miglustat is effective in stabilizing neurological manifestations of NP-C. Ketogenic dietary therapies (KDT) are successfully used in patients with seizure disorders, including those associated with various inherited metabolic diseases (IMD), to reduce seizure frequency and medication requirement as well as to confer neuroprotection. Since patients with NP-C suffer pharmacorefractory seizures associated with ongoing neurodegeneration, KDT might be beneficial. The concomitant use of miglustat and KDT in patients with NP-C has not been reported.

CASE PRESENTATION: We describe our experience in a now 17-year-old female with NP-C manifest early in childhood who has been successfully and continuously treated with miglustat and KDT in a palliative care setting for 3y. Although the neurodegeneration of NP-C progressed, she benefited from a reduction in seizure activity, fewer hospital stays related to seizure exacerbation, and increased alertness.

CONCLUSION: KDT could be safely deployed in our patient with NP-C, in whom its effects have been beneficial. Generally KDT is demonstratedly efficacious in patients with epilepsy and IMD. It reduces seizure activity and medication requirements and confers neuroprotection. Intracellular cholesterol trafficking and regulation of cholesterol biosynthesis are impaired in NP-C, which may prompt caution with respect to dietary lipid intake.

© 2021 The Authors. Published by Elsevier Inc.

Keywords: Ketogenic diet; Ketogenic dietary therapy; Lysosomal storage disease; Niemann-Pick disease type C; Palliative care

Conflict of interest statement

All authors declare that they have no competing interest.

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