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No effect of triheptanoin in patients with phosphofructokinase deficiency

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Phosphofructokinase deficiency (PFKD) is a rare disorder of glycogen metabolism. The lack of phosphofructokinase activity blocks the oxidative pathway from glucose and glycogen to pyruvate. Patients suffer from myopathy, exercise intolerance, and myoglobinuria. Currently, there is no specific treatment for PFKD. We hypothesized that 2 weeks treatment with triheptanoin could improve oxidative metabolism during exercise by bypassing the blocked pyruvate generation in PFKD. The study was a randomized, double-blind, placebo-controlled crossover study. Three genetically verified patients completed two treatment periods of 14 days each with triheptanoin (0.3-1 g × kg-1 × day-1) or placebo liquid. Primary outcomes were heart rate, fatty acid and total oxidation measured via stable isotope and indirect calorimetry methodology during submaximal exercise. Triheptanoin did not improve the primary outcome heart rate during submaximal exercise compared to placebo. Palmitate oxidation was increased during submaximal exercise in one patient but did not increase in the two other patients during triheptanoin treatment. Palmitate production and palmitate utilization increased during exercise and increased to a greater extent with triheptanoin treatment in all three patients. This study suggests that triheptanoin treatment has no effect on heart rate or exercise performance despite increased palmitate production and utilization in patients with PFKD.

Original languageEnglish
JournalNeuromuscular disorders : NMD
Issue number4
Pages (from-to)295-304
Number of pages10
Publication statusPublished - Apr 2022

Bibliographical note

Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

    Research areas

  • Cross-Over Studies, Glycogen, Humans, Palmitates, Phosphofructokinases, Pyruvates, Triglycerides

ID: 78307323