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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 - 10.1002/jmd2.12309

DO - 10.1002/jmd2.12309

M3 - Article

C2 - 36101817

VL - 63

SP - 407

EP - 413

JO - JIMD reports

JF - JIMD reports

SN - 2192-8304

IS - 5

ER -