Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

PLoS One. 2016 Feb 16;11(2):e0147818. doi: 10.1371/journal.pone.0147818. eCollection 2016.

Abstract

Rhabdomyolysis is common in very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and other metabolic myopathies, but its pathogenic basis is poorly understood. Here, we show that prolonged bicycling exercise against a standardized moderate workload in VLCADD patients is associated with threefold bigger changes in phosphocreatine (PCr) and inorganic phosphate (Pi) concentrations in quadriceps muscle and twofold lower changes in plasma acetyl-carnitine levels than in healthy subjects. This result is consistent with the hypothesis that muscle ATP homeostasis during exercise is compromised in VLCADD. However, the measured rates of PCr and Pi recovery post-exercise showed that the mitochondrial capacity for ATP synthesis in VLCADD muscle was normal. Mathematical modeling of oxidative ATP metabolism in muscle composed of three different fiber types indicated that the observed altered energy balance during submaximal exercise in VLCADD patients may be explained by a slow-to-fast shift in quadriceps fiber-type composition corresponding to 30% of the slow-twitch fiber-type pool in healthy quadriceps muscle. This study demonstrates for the first time that quadriceps energy balance during exercise in VLCADD patients is altered but not because of failing mitochondrial function. Our findings provide new clues to understanding the risk of rhabdomyolysis following exercise in human VLCADD.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetylcarnitine / blood
  • Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
  • Acyl-CoA Dehydrogenase, Long-Chain / metabolism
  • Adenosine Triphosphate / biosynthesis*
  • Adolescent
  • Adult
  • Case-Control Studies
  • Congenital Bone Marrow Failure Syndromes
  • Exercise*
  • Female
  • Humans
  • Lipid Metabolism, Inborn Errors / complications
  • Lipid Metabolism, Inborn Errors / metabolism*
  • Lipid Metabolism, Inborn Errors / pathology
  • Lipid Metabolism, Inborn Errors / physiopathology
  • Male
  • Mitochondria / metabolism
  • Mitochondrial Diseases / complications
  • Mitochondrial Diseases / metabolism*
  • Mitochondrial Diseases / pathology
  • Mitochondrial Diseases / physiopathology
  • Models, Statistical*
  • Muscle Fibers, Fast-Twitch / metabolism
  • Muscle Fibers, Fast-Twitch / pathology
  • Muscle Fibers, Slow-Twitch / metabolism
  • Muscle Fibers, Slow-Twitch / pathology
  • Muscular Diseases / complications
  • Muscular Diseases / metabolism*
  • Muscular Diseases / pathology
  • Muscular Diseases / physiopathology
  • Oxidative Phosphorylation
  • Phosphates / metabolism
  • Phosphocreatine / metabolism
  • Rhabdomyolysis / complications
  • Rhabdomyolysis / metabolism*
  • Rhabdomyolysis / pathology
  • Rhabdomyolysis / physiopathology

Substances

  • Phosphates
  • Phosphocreatine
  • Acetylcarnitine
  • Adenosine Triphosphate
  • Acyl-CoA Dehydrogenase, Long-Chain

Supplementary concepts

  • VLCAD deficiency