Crisafulli Oscar, Quintiero Venere, Grattarola Luca, Bottoni Giorgio, Giovanetti Giuseppe, Negro Massimo, Lavaselli Emanuela, D'Antona Giuseppe
CRIAMS-Sport Medicine Centre Voghera, University of Pavia, 27058, Voghera, Italy.
Department of Public Health, Experimental and Forensic Medicine, University of Pavia, 27100, Pavia, Italy.
Eur J Appl Physiol. 2025 May;125(5):1311-1322. doi: 10.1007/s00421-024-05684-z. Epub 2024 Dec 10.
The risk of exercise-induced rhabdomyolysis, followed by abrupt creatine kinase (CK) augmentation, associated with carnitine palmitoyl transferase II (CPTII) deficiency causes patients to abstain from physical training. However, the exercise adjustment to the disease-induced metabolic impairment, accompanied by a tailored nutritional and supplementation strategy, could make sporting activity feasible, even at a competitive level. Here, we report the case of an 18-year-old male basketball player at a competitive level diagnosed for CPTII deficiency after a rhabdomyolytic event. Subsequent genetic analysis revealed the previously unreported c.1741C > T genetic mutation.
The patient underwent a battery of tests to evaluate nutrition (indirect calorimetry; 8-day food records), hydration (bioimpedance analysis), and the use of energy substrates during exercise (cardiopulmonary exercise test, CPET).
Inadequate macronutrients distribution with respect to the reference values for CPTII deficiency, an optimal hydration status, and a non-physiological prevalence of carbohydrates consumption all along the CPET, accentuated with workload augmentation, were found. Based on the results, the patient was provided with a personalized nutritional (carbohydrate = 50-55%, fat = 20%, and protein = 25-30% of total energy) and supplementation (medium-chain triglycerides, β-alanine, and creatine citrate) plan, and indications on the exercise intensity to be adopted to avoid the contribution of fat to energy production. Monitoring of CK for the five months following the resumption of sporting activity shows that the patient no longer had rhabdomyolysis.
These findings suggest that tailoring exercise, nutrition and supplementation upon the disease-induced metabolic limitation makes sport activity at a competitive level feasible in a CPTII-deficient patient, prompting further analysis on larger cohorts.
运动诱发横纹肌溶解症，随后肌酸激酶（CK）突然升高，与肉碱棕榈酰转移酶II（CPTII）缺乏相关，这使得患者无法进行体育锻炼。然而，针对疾病引起的代谢障碍进行运动调整，并辅以量身定制的营养和补充策略，即使在竞技水平上，体育活动也可以实现。在此，我们报告一例18岁处于竞技水平的男性篮球运动员，在发生横纹肌溶解事件后被诊断为CPTII缺乏。随后的基因分析发现了此前未报道的c.1741C＞T基因突变。
患者接受了一系列测试，以评估营养状况（间接测热法；8天饮食记录）、水合状态（生物电阻抗分析）以及运动期间能量底物的利用情况（心肺运动试验，CPET）。
发现相对于CPTII缺乏的参考值，常量营养素分布不当、水合状态最佳，以及在整个CPET过程中碳水化合物消耗占非生理性优势，且随着工作量增加而加剧。根据这些结果，为患者提供了个性化的营养（碳水化合物=总能量的50-55%，脂肪=20%，蛋白质=25-30%）和补充（中链甘油三酯、β-丙氨酸和柠檬酸肌酸）计划，以及关于应采用的运动强度的建议，以避免脂肪对能量产生的贡献。恢复体育活动后五个月对CK的监测表明，患者不再发生横纹肌溶解症。
这些发现表明，根据疾病引起的代谢限制调整运动、营养和补充，使CPTII缺乏患者在竞技水平上进行体育活动成为可能，这促使对更大队列进行进一步分析。
