Ketogenic diet for mitochondrial disease: potential role in treating the Multiple Symmetric Lipomatosis phenotype associated with the common MT-TK genetic mutation
Orphanet Journal of Rare Diseases volume 17, Article number: 12 (2022)
We read with appreciation the succinct and informative systematic review by Zweers et al.  on the effect of the Ketogenic Diet and/or the Modified Atkins Diet on various mitochondrial disease associated phenotypes.
While this review covered studies pertaining to epilepsy, skeletal and heart muscle, tonus dysregulation, movement disorder, developmental delay/intellectual disability, food intake, weight gain/growth, and hair growth, we note that the multiple symmetric lipomatosis phenotype, frequently associated with the MT-TK genetic mutation, was not covered.
We would like to highlight that a version of the ketogenic diet was employed successfully, along with other simultaneous lifestyle interventions, in treating a disabling multiple symmetric lipomatosis phenotype. This successful intervention was reported in 2020  and warrants further consideration by care providers whose patients are in a similar predicament, and similarly motivated.
Andre Mattman, MD, FRCPC
Adult Metabolic Diseases Clinic
Availability of data and material
Zweers H, van Wegberg AMJ, Janssen MCH, Wortmann SB. Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety. Orphanet J Rare Dis. 2021;16(1):295. https://doi.org/10.1186/s13023-021-01927-w (PMID: 34217336).
Nadeau E, Mezei MM, Cresswell M, Zhao S, Bosdet T, Sin DD, Guenette JA, Dupuis I, Allin E, Clarke DC, Mattman A. Self-initiated lifestyle interventions lead to potential insight into an effective, alternative, non-surgical therapy for mitochondrial disease associated multiple symmetric lipomatosis. Mitochondrion. 2020;52:183–9. https://doi.org/10.1016/j.mito.2020.03.009 (Epub 2020 Mar 29 PMID: 32234544).
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Mattman, A., Nadeau, E., Mezei, M.M. et al. Ketogenic diet for mitochondrial disease: potential role in treating the Multiple Symmetric Lipomatosis phenotype associated with the common MT-TK genetic mutation. Orphanet J Rare Dis 17, 12 (2022). https://doi.org/10.1186/s13023-021-02164-x