TY - JOUR
T1 - Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency
T2 - A case report
AU - Stolwijk, Nina N.
AU - Langeveld, Mirjam
AU - Jacobs, Bart A. W.
AU - Vogt, Liffert
AU - Haverkamp, Jorien A.
AU - Ferdinandusse, Sacha
AU - Hollak, Carla E. M.
N1 - Funding Information: We thank Dr. Terry Derks for providing the active ingredient for the hospital pharmacy-compounded βHB preparation. Furthermore, we would like to thank the patient for his participation in this study. Open access funding enabled and organized by Projekt DEAL. Publisher Copyright: © 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
PY - 2022/9/1
Y1 - 2022/9/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85138016098&partnerID=8YFLogxK
U2 - https://doi.org/10.1002/jmd2.12309
DO - https://doi.org/10.1002/jmd2.12309
M3 - Article
C2 - 36101817
SN - 2192-8304
VL - 63
SP - 407
EP - 413
JO - JIMD reports
JF - JIMD reports
IS - 5
ER -