ArticleFrontiers in physiology2021
Nutrition and Exercise in a Case of Carnitine Palmitoyl-Transferase II Deficiency.
Article 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, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).Journal of inherited metabolic disease · 2026Guideline
- Effects of Ingesting Food Containing Heat-KilledNutrients · 2023Trial
- 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
- 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
- Effects of a Combined Nutritional and Physical Training Program Approach in a Case of Facioscapulohumeral Dystrophy: A One-Year Follow-Up.Case reports in medicine · 2025Article
- Bioimpedance analysis of fat free mass and its subcomponents and relative associations with maximal oxygen consumption in facioscapulohumeral dystrophy.European journal of applied physiology · 2025Article
- Aging exacerbates oxidative stress and liver fibrosis in an animal model of Down Syndrome.Aging · 2024Article
- Case report: A creatine kinase-borg scale values-based approach to tailor physical training in a central core myopathy patient.Frontiers in physiology · 2024Article
- Editorial: Strategies to fight exercise intolerance in neuromuscular disorders, volume II.Frontiers in physiology · 2023Article
- Exercise, Nutrition, and Supplements in the Muscle Carnitine Palmitoyl-Transferase II Deficiency: New Theoretical Bases for Potential Applications.Frontiers in physiology · 2021Review
- Traditional Nostril Yoga Breathing Practices and Oxygen Consumption: A Randomized, Cross-over Study.International journal of yogaArticle
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
In the mild subtype of inherited carnitine palmitoyltransferase II (CPTII) deficiency, muscular mitochondrial fatty acid β-oxidation is impaired. In this condition, interventions involve daily dietary restriction of fats and increase of carbohydrates, whereas physical exercise is commonly contraindicated due to the risk of muscle pain and rhabdomyolysis. We present the case of a 14-year-old female with CPTII deficiency who underwent a 1-h session of unsupervised exercise training for 6 months, 3 days per week, including interval and resistance exercises, after diet assessment and correction. Before and after intervention, the resting metabolic rate (RMR) and respiratory quotient (RQ) were measured by indirect calorimetry, and a cardiopulmonary exercise test (CPET, 10 W/30 s to exhaustion) was performed. Interval training consisted of a 1 min run and a 5 min walk (for 15 min progressively increased to 30 min). During these efforts, the heart rate was maintained over 70% HR max corresponding to respiratory exchange ratio (RER) of 0.98. Resistance training included upper/lower split workouts (3 sets of 8 repetitions each, with 2 min rest between sets). Blood CK was checked before and 36 h after two training sessions chosen randomly without significant difference. After training, RMR increased (+8.1%) and RQ lowered into the physiological range (from 1.0 to 0.85). CPET highlighted an increase of peak power output (+16.7%), aerobic performance (VO
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