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Bölsterli, Bigna K. [Verfasser:in]; Boltshauser, Eugen [Verfasser:in]; Palmieri, Luigi [Verfasser:in]; Spenger, Johannes [Verfasser:in]; Brunner-Krainz, Michaela [Verfasser:in]; Distelmaier, Felix [Verfasser:in]; Freisinger, Peter [Verfasser:in]; Geis, Tobias [Verfasser:in]; Gropman, Andrea L. [Verfasser:in]; Häberle, Johannes [Verfasser:in]; Hentschel, Julia [Verfasser:in]; Jeandidier, Bruno [Verfasser:in]; Karall, Daniela [Verfasser:in]; Keren, Boris [Verfasser:in]; Klabunde-Cherwon, Annick [Verfasser:in]; Konstantopoulou, Vassiliki [Verfasser:in]; Kottke, Raimund [Verfasser:in]; Lasorsa, Francesco M. [Verfasser:in]; Makowski, Christine [Verfasser:in]; Mignot, Cyril [Verfasser:in]; O'Gorman Tuura, Ruth [Verfasser:in]; Porcelli, Vito [Verfasser:in]; Santer, René [Verfasser:in]; Sen, Kuntal [Verfasser:in]; [...]

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

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  • Medientyp: E-Artikel
  • Titel: Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
  • Beteiligte: Bölsterli, Bigna K. [Verfasser:in]; Boltshauser, Eugen [Verfasser:in]; Palmieri, Luigi [Verfasser:in]; Spenger, Johannes [Verfasser:in]; Brunner-Krainz, Michaela [Verfasser:in]; Distelmaier, Felix [Verfasser:in]; Freisinger, Peter [Verfasser:in]; Geis, Tobias [Verfasser:in]; Gropman, Andrea L. [Verfasser:in]; Häberle, Johannes [Verfasser:in]; Hentschel, Julia [Verfasser:in]; Jeandidier, Bruno [Verfasser:in]; Karall, Daniela [Verfasser:in]; Keren, Boris [Verfasser:in]; Klabunde-Cherwon, Annick [Verfasser:in]; Konstantopoulou, Vassiliki [Verfasser:in]; Kottke, Raimund [Verfasser:in]; Lasorsa, Francesco M. [Verfasser:in]; Makowski, Christine [Verfasser:in]; Mignot, Cyril [Verfasser:in]; O'Gorman Tuura, Ruth [Verfasser:in]; Porcelli, Vito [Verfasser:in]; Santer, René [Verfasser:in]; Sen, Kuntal [Verfasser:in]; [...]
  • Erschienen: Basel: MDPI, [2023]
  • Erschienen in: Nutrients ; 14, (2022)
  • Sprache: Englisch
  • Schlagwörter: epilepsy ; serine ; modified Atkins diet ; citrin deficiency ; aspartate glutamate carrier 1 deficiency ; mitochondrial disease ; treatment ; AGC1 ; hepatopathy ; Citrullinemia
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: Themitochondrialmalate aspartate shuttle system(MAS)maintains the cytosolicNAD+/NADHredox balance, thereby sustaining cytosolic redox-dependent pathways, such as glycolysis andserine biosynthesis. Human disease has been associated with defects in four MAS-proteins (encodedby MDH1, MDH2, GOT2, SLC25A12) sharing a neurological/epileptic phenotype, as wellas citrin deficiency (SLC25A13) with a complex hepatopathic-neuropsychiatric phenotype. Ketogenicdiets (KD) are high-fat/low-carbohydrate diets, which decrease glycolysis thus bypassing thementioned defects. The same holds for mitochondrial pyruvate carrier (MPC) 1 deficiency, whichalso presents neurological deficits. We here describe 40 (18 previously unreported) subjects withMAS-/MPC1-defects (32 neurological phenotypes, eight citrin deficiency), describe and discuss theirphenotypes and genotypes (presenting 12 novel variants), and the efficacy of KD. Of 13 MAS/MPC1-individuals with a neurological phenotype treated with KD, 11 experienced benefits—mainly astriking effect against seizures. Two individuals with citrin deficiency deceased before the correctdiagnosis was established, presumably due to high-carbohydrate treatment. Six citrin-deficient individualsreceived a carbohydrate-restricted/fat-enriched diet and showed normalisation of laboratoryvalues/hepatopathy as well as age-adequate thriving. We conclude that patients with MAS-/MPC1-defects are amenable to dietary intervention and that early (genetic) diagnosis is key for initiation ofproper treatment and can even be lifesaving.
  • Zugangsstatus: Freier Zugang
  • Rechte-/Nutzungshinweise: Namensnennung (CC BY)