ReviewFrontiers in physiology2021
Exercise, Nutrition, and Supplements in the Muscle Carnitine Palmitoyl-Transferase II Deficiency: New Theoretical Bases for Potential Applications.
Review in Frontiers in physiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 13 citations in OpenAlex.
- The ketogenic diet is not for everyone: contraindications, side effects, and drug interactions.Annals of medicine · 2026Review
- Physical exercise in metabolic myopathies at risk of rhabdomyolysis: a feasible approach or an unavoidable hazard?European journal of applied physiology · 2025Review
- Impact of individualized and supervised strength training on muscle physiology, metabolic control and quality of life in metabolic myopathies.Scientific reports · 2025Article
- Migratory and intermittent polyarthritis as an atypical presentation of carnitine palmitoyltransferase II deficiency with positive response to treatment with Interleukin-1 receptor antagonist: a case presentation and case-based review.Rheumatology international · 2025Review
- The first case of a competitive basketball player affected by carnitine palmitoyl transferase II deficiency presenting an undescribed compound heterozygous genetic mutation.European journal of applied physiology · 2025Article
- Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.Journal of inherited metabolic disease · 2025Article
- Carnitine Palmitoyltransferase II (CPT2) Deficiency: An Overlooked and Elusive Cause of Acute Kidney Injury.Cureus · 2024Article
- The role of genetic defects in carnitine-associated hepatic encephalopathy: a review of literature.Gastroenterology and hepatology from bed to bench · 2024Review
- Investigating the Link between Ketogenic Diet, NAFLD, Mitochondria, and Oxidative Stress: A Narrative Review.Antioxidants (Basel, Switzerland) · 2023Review
- The Effects of Medium-Chain Triglyceride Oil Supplementation on Endurance Performance and Substrate Utilization in Healthy Populations: A Systematic Review.Journal of obesity & metabolic syndrome · 2022Review
- Article
- EPA and DHA acylcarnitines are less cardiotoxic than are saturated and monounsaturated long-chain acylcarnitines.BioFactors (Oxford, England)Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Carnitine palmitoyltransferase II (CPTII) deficiency is the most frequent inherited disorder regarding muscle fatty acid metabolism, resulting in a reduced mitochondrial long-chain fatty acid oxidation during endurance exercise. This condition leads to a clinical syndrome characterized by muscle fatigue and/or muscle pain with a variable annual frequency of severe rhabdomyolytic episodes. While since the CPTII deficiency discovery remarkable scientific advancements have been reached in genetic analysis, pathophysiology and diagnoses, the same cannot be said for the methods of treatments. The current recommendations remain those of following a carbohydrates-rich diet with a limited fats intake and reducing, even excluding, physical activity, without, however, taking into account the long-term consequences of this approach. Suggestions to use carnitine and medium chain triglycerides remain controversial; conversely, other potential dietary supplements able to sustain muscle metabolism and recovery from exercise have never been taken into consideration. The aim of this review is to clarify biochemical mechanisms related to nutrition and physiological aspects of muscle metabolism related to exercise in order to propose new theoretical bases of treatment which, if properly tested and validated by future trials, could be applied to improve the quality of life of these patients.
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Registered trials
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