Open AccessRecurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report
Author(s) -
Stolwijk Ni.,
Langeveld Mirjam,
Jacobs Bart A. W.,
Vogt Liffert,
Haverkamp Jorien A.,
Ferdinandusse Sacha,
Hollak Carla E. M.
Publication year - 2022
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12309
Subject(s) - ketone bodies , metabolic alkalosis , discontinuation , rhabdomyolysis , beta oxidation , urea cycle , medicine , metabolic acidosis , inborn error of metabolism , propionic acidemia , metabolic disorder , ketone , mitochondrial disease , levocarnitine , endocrinology , carnitine , metabolism , chemistry , biochemistry , amino acid , organic chemistry , arginine , mitochondrial dna , gene
Recent studies have reported the potential for the therapeutic use of ketones in the form of ketone salts (KSs) in pediatric patients with fatty acid oxidation disorders (FAODs). We report a case of ketone salt administration in an adult patient with mitochondrial trifunctional protein deficiency (MTPD), an ultra‐rare inborn error of the fatty acid metabolism. This patient was treated with oral KSs during an episode of sepsis of unknown origin. Before KS supplementation was initiated, he had developed severe rhabdomyolysis as well as a respiratory insufficiency that did not respond to emergency treatment aimed at stabilizing the metabolic decompensation by promoting anabolism. Therefore, KS supplementation was attempted twice to support his energy production and help regain metabolic stability. In both instances, KS supplementation led to a considerable metabolic alkalosis, which prompted its discontinuation. This adverse event could have been caused by an increase in extracellular sodium load due to KS administration. Therefore, the clinical applicability of KSs in adults may be limited. Alternative chemical forms of beta‐hydroxybutyrate (βHB), such as ketone esters, might provide a more acceptable safety profile for future research into the therapeutic benefits of ketone body supplementation in adult patients with FAODs.