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Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Bölsterli BK, Boltshauser E, Palmieri L, Spenger J, Brunner-Krainz M, Distelmaier F, Freisinger P, Geis T, Gropman AL, Häberle J, Hentschel J, Jeandidier B, Karall D, Keren B, Klabunde-Cherwon A, Konstantopoulou V, Kottke R, Lasorsa FM, Makowski C, Mignot C, O'Gorman Tuura R, Porcelli V, Santer R, Sen K, Steinbrücker K, Syrbe S, Wagner M, Ziegler A, Zöggeler T, Mayr JA, Prokisch H, Wortmann SB. Bölsterli BK, et al. Nutrients. 2022 Aug 31;14(17):3605. doi: 10.3390/nu14173605. Nutrients. 2022. PMID: 36079864 Free PMC article.
Ketogenic diets (KD) are high-fat/low-carbohydrate diets, which decrease glycolysis thus bypassing the mentioned defects. The same holds for mitochondrial pyruvate carrier (MPC) 1 deficiency, which also presents neurological deficits. ...Six citrin- …
Ketogenic diets (KD) are high-fat/low-carbohydrate diets, which decrease glycolysis thus bypassing the mentioned defects. The same holds for …
Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism.
Ruitenbeek W, Wendel U, Hamel BC, Trijbels JM. Ruitenbeek W, et al. J Inherit Metab Dis. 1996;19(4):581-7. doi: 10.1007/BF01799118. J Inherit Metab Dis. 1996. PMID: 8884581 Review.
Empirical data about the recurrence risk can be applied in Leber disease (LHON). Mitochondrial disorders not associated with a point mutation have a sporadic nature (large deletions/duplications in mitochondrial DNA) or are transmitted according to Mendelian laws. A …
Empirical data about the recurrence risk can be applied in Leber disease (LHON). Mitochondrial disorders not associated with a point …