ArticleProceedings of the National Academy of Sciences of the United States of America2017
Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 46 citations in OpenAlex.
- Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.The Journal of clinical investigation · 2021Trial
- No effect of triheptanoin on exercise performance in McArdle disease.Annals of clinical and translational neurology · 2019Trial
- McArdle disease (Glycogen Storage Disease Type V) from an exercise physiology and biochemistry perspective: Important considerations for exercise and physical activity testing and data interpretation.Sports medicine and health science · 2026Article
- 4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity.bioRxiv : the preprint server for biology · 2026Article
- Knowledge Gaps and Controversies on Cardiopulmonary Exercise Testing in the Assessment of Pulmonary Vascular Disease: An Official Statement of the Pulmonary Vascular Research Institute Exercise and Right Ventricular Function Task Force.Pulmonary circulation · 2026Article
- Irisin deficiency exacerbates cardiac dysfunction and enhances hemorrhage injury in hemorrhage/resuscitation.American journal of physiology. Regulatory, integrative and comparative physiology · 2025Article
- Hypoxia as a medicine.Science translational medicine · 2025Review
- A platform to map the mind-mitochondria connection and the hallmarks of psychobiology: the MiSBIE study.Trends in endocrinology and metabolism: TEM · 2024Review
- Mitochondrial Biomarkers in the Omics Era: A Clinical-Pathophysiological Perspective.International journal of molecular sciences · 2024Review
- Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease.The Journal of physiology · 2023Article
- OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.Communications biology · 2023Article
- Metabolomic biomarkers in autism: identification of complex dysregulations of cellular bioenergetics.Frontiers in psychiatry · 2023Article
- Article
- The Role of Lactate Exercise Test and Fasting Plasma C-Peptide Levels in the Diagnosis of Mitochondrial Diabetes: Analysis of Clinical Characteristics of 12 Patients With Mitochondrial Diabetes in a Single Center With Long-Term Follow-Up.Frontiers in endocrinology · 2022Article
- Identification of bioactive metabolites in human iPSC-derived dopaminergic neurons with PARK2 mutation: Altered mitochondrial and energy metabolism.Stem cell reports · 2021Article
- Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA Mutations.Journal of clinical medicine · 2021Review
- Plasma metabolomics exhibit response to therapy in chronic thromboembolic pulmonary hypertension.The European respiratory journal · 2021Article
- Mitochondrial lactate metabolism: history and implications for exercise and disease.The Journal of physiology · 2021Review
- Proteomic and metabolomic advances uncover biomarkers of mitochondrial disease pathophysiology and severity.The Journal of clinical investigation · 2021Article
- Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).Orphanet journal of rare diseases · 2020Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
McArdle disease and mitochondrial myopathy impair muscle oxidative phosphorylation (OXPHOS) by distinct mechanisms: the former by restricting oxidative substrate availability caused by blocked glycogen breakdown, the latter because of intrinsic respiratory chain defects. We applied metabolic profiling to systematically interrogate these disorders at rest, when muscle symptoms are typically minimal, and with exercise, when symptoms of premature fatigue and potential muscle injury are unmasked. At rest, patients with mitochondrial disease exhibit elevated lactate and reduced uridine; in McArdle disease purine nucleotide metabolites, including xanthine, hypoxanthine, and inosine are elevated. During exercise, glycolytic intermediates, TCA cycle intermediates, and pantothenate expand dramatically in both mitochondrial disease and control subjects. In contrast, in McArdle disease, these metabolites remain unchanged from rest; but urea cycle intermediates are increased, likely attributable to increased ammonia production as a result of exaggerated purine degradation. Our results establish skeletal muscle glycogen as the source of TCA cycle expansion that normally accompanies exercise and imply that impaired TCA cycle flux is a central mechanism of restricted oxidative capacity in this disorder. Finally, we report that resting levels of long-chain triacylglycerols in mitochondrial myopathy correlate with the severity of OXPHOS dysfunction, as indicated by the level of impaired O
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