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Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inherited disorder affecting fatty acid metabolism. This enzymatic defect presents with a broad clinical spectrum, from severe neonatal forms that can be fatal, to milder myopathic variants characterized by myalgia and recurrent myoglobinuria in adolescence and adulthood. Herein, we report the case of a male patient who developed exertional rhabdomyolysis and acute kidney injury due to CPT2 deficiency. This case underscores the importance of considering genetic disorders in the differential diagnosis of patients presenting with recurrent exercise intolerance and metabolic crises. Early recognition and diagnosis enable prompt implementation of dietary and lifestyle modifications aimed at mitigating potential complications such as renal impairment. Moreover, timely diagnosis allows for genetic counseling of affected individuals and their families., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Seferi et al.)