The first case of a competitive basketball player affected by carnitine palmitoyl transferase II deficiency presenting an undescribed compound heterozygous genetic mutation

Oscar Crisafulli; Venere Quintiero; Luca Grattarola; Giorgio Bottoni; Giuseppe Giovanetti; Massimo Negro; Emanuela Lavaselli; Giuseppe D'Antona

doi:10.1007/s00421-024-05684-z

The first case of a competitive basketball player affected by carnitine palmitoyl transferase II deficiency presenting an undescribed compound heterozygous genetic mutation

Eur J Appl Physiol. 2024 Dec 10. doi: 10.1007/s00421-024-05684-z. Online ahead of print.

Authors

Oscar Crisafulli¹, Venere Quintiero¹, Luca Grattarola¹, Giorgio Bottoni¹, Giuseppe Giovanetti¹, Massimo Negro¹, Emanuela Lavaselli¹, Giuseppe D'Antona^{2

3}

Affiliations

¹ CRIAMS-Sport Medicine Centre Voghera, University of Pavia, 27058, Voghera, Italy.
² CRIAMS-Sport Medicine Centre Voghera, University of Pavia, 27058, Voghera, Italy. giuseppe.dantona@unipv.it.
³ Department of Public Health, Experimental and Forensic Medicine, University of Pavia, 27100, Pavia, Italy. giuseppe.dantona@unipv.it.

PMID: 39653856
DOI: 10.1007/s00421-024-05684-z

Abstract

Purpose: 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.

Methods: 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).

Result: 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.

Conclusion: 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.

Keywords: Basketball; CPT II; Creatine kinase; Fatmax; Metabolic disorders.