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Vol.:(0123456789)European Journal of Applied Physiology (2025) 125:3039–3064 https://doi.org/10.1007/s00421-025-05922-yINVITED REVIEWPhysical exercise in metabolic myopathies at risk of rhabdomyolysis: a feasible approach or an unavoidable hazard?Oscar Crisafulli 1  · Daniele Diotti 1  · Massimo Negro 1  · Emanuela Lavaselli 1  · Melinda Peters 2  · Venere Quintiero 1  · Giuseppe D’Antona 1,3 Received: 15 May 2025 / Accepted: 15 July 2025 / Published online: 4 August 2025 © The Author(s) 2025AbstractMetabolic myopathies are a diverse group of inherited genetic disorders that disrupt carbohydrate and fatty acid metabolism, leading to impaired production of adenosine triphosphate and consequently, compromised muscle function. In many of these conditions, regardless of the specif i c metabolic defect, physical exercise (PE) can induce rhabdomyolysis (RML), posing a signif i cant health risk to patients. Except for Glycogen Storage Disease (GSD) Type V, for which specif i c PE guidelines are available, clinical management of these conditions typically advocates for substantial physical inactivity to prevent complications. However, while this strategy helps avoid RML and its dangerous consequences, such as acute kidney failure, it also exposes patients to several long-term risks, including a decline in physical ef f i ciency, reduced autonomy, and the emergence of comorbidities. Therefore, it is crucial to identify disease-specif i c PE modalities that can be safely performed to improve clinical management and enhance patients’ quality of life. The existing literature on this topic is generally limited, likely due to the rarity of these conditions. Nevertheless, a comprehensive analysis of the available evidence could provide a foundation for identifying feasible PE modalities and developing innovative strategies for adapting PE to dif f erent diseases. This review critically examines the current evidence on the ef f ects and feasibility of PE in GSDs and fatty acid oxidation disorders, focusing on the distinction between aerobic and anaerobic exercise. Additionally, it explores the usefulness of supporting nutritional strategies while identifying literature gaps. Finally, based on the available data, novel theories for exercise adaptation are discussed, aiming for prospective validation in future studies.Keywords Metabolic myopathies · Adapted physical exercise · Exercise physiology · Rhabdomyolysis · Glycogen storage disorders · Fatty acid oxidation disordersAbbreviationsACADVL Very long-chain acyl-CoA dehydrogenaseATP Adenosine triphosphateBMI Body mass indexCa 2 ? CalciumCHO CarbohydratesCK Creatine kinaseCPET Cardiopulmonary exercise testingCPT II Carnitine palmitoyl-transferase IICr CreatineDEXA Dual energy x-ray absorptiometryENO3 Enolase 3ET-QO ETF-ubiquinone oxidoreductaseETF Electron transfer fl avoproteinFA Fatty acidFAO Fatty acid oxidationFATMAX Maximal fat oxidationg GramGA II Glutaric aciduria type IIGlu GlucoseGSD Glycogen storage diseaseHADHA Hydroxyacyl-CoA dehydrogenase trifunc-tional multienzyme complex subunit alphaHIIT High-intensity interval trainingHR Heart rateCommunicated by Michalis G Nikolaidis. * Giuseppe D’Antona giuseppe.dantona@unipv.it1 CRIAMS-Sport Medicine Centre Voghera, University of Pavia, 27058 Voghera, Italy2 Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA3 Department of Public Health, Experimental and Forensic Medicine, University of Pavia, 27100 Pavia, Italy