Nutrition and Exercise in a Case of Carnitine Palmitoyl-Transferase II Deficiency

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 (VO2 peak, 8.3%) and anaerobic threshold (+5.7%), oxygen pulse (+4.5%) and a much longer isocapnic buffering duration (+335%). No muscle pain or rhabdomyolysis was reported. Results from our study highlight that training based on short-duration high-intensity exercise improves overall metabolism and aerobic fitness, thus being feasible, at least in a case of CPTII deficiency.

Effects of Ingesting Food Containing Heat-Killed Lactococcus lactis Strain Plasma on Fatigue and Immune-Related Indices after High Training Load: A Randomized, Double-Blind, Placebo-Controlled, and Parallel-Group Study

“…The experimental period was same as the previous study [ 20 ], and it was confirmed that DC activity decreased significantly after 14 days of continuous exercise in the sports club students, as found in our preliminary study (unpublished data). On day 15, they performed a single 2 h exercise using a cycle ergometer, and exercised in the range of 70–80% of maximum heart rate intensity, which is commonly classified as a high-intensity exercise level [ 21 , 22 , 23 , 24 ].…”

Exercise, Nutrition, and Supplements in the Muscle Carnitine Palmitoyl-Transferase II Deficiency: New Theoretical Bases for Potential Applications

“…In addition, muscle pain, electrolyte balance, urine color, arterial blood gas examination, muscle biopsy, and/or electrocardiogram may be used to complete the assessment for the diagnosis of rhabdomyolysis ( Kim et al, 2016 ). The mechanisms involved in the progression of rhabdomyolytic events were elucidated by several authors ( Bagley et al, 2007 ; Kim et al, 2016 ; Parimbelli et al, 2021 ). The most severe potential complication of rhabdomyolysis is an acute renal failure due to the dramatic release of Mb by the damaged muscle, resulting in its precipitation and accumulation in renal tubules with an impairment of the filtering efficiency ( Panizo et al, 2015 ).…”

“…The first trial that successfully applied MIIT and RT on CPTII deficiency patients has recently been reported by our lab ( Parimbelli et al, 2021 ), with promising results. In the study, a 14-year-old female with CPTII deficiency was involved in an exercise program of 6-months (3-days per week, 1 h/session each) based on MIIT at 70% VO 2 max and resistance upper/lower split workouts.…”

“…Reducing the carbohydrates content of the diet, by replacing a part of carbohydrates with proteins, may have several positive effects: (1) decreasing both hyperglycemia and hyperinsulinemia, due to different glycemic regulation of proteins compared to carbohydrates ( Phillips et al, 2020 ); (2) increasing fatty acid oxidation in skeletal muscle, reducing muscle fat deposition and preventing insulin resistance ( Phillips et al, 2020 ); (3) stimulating muscle protein synthesis ( Phillips et al, 2020 ) to support muscle recovery after MIIT and RT; (4) generating a part of glucose, via gluconeogenesis, but in a slower way than directly from the carbohydrates ( Phillips et al, 2020 ). Recommendations to use carbohydrates-concentrated foods, snacks, sports bars or liquid beverages should remain limited to MIIT and/or RT sessions (before, during and soon after), with the aim of supporting exercise time-related energy delivery ( Parimbelli et al, 2021 ).…”

“…In the first one, by Roe et al (2008) seven patients with CPTII deficiency were subjected to a dietary regimen including carbohydrates reduction (37%) in favor to triheptanoin and no episodes of rhabdomyolysis or major muscle complaints were experienced, despite an overall increase in daily physical activity. In the second, more recent study, a case report from our lab ( Parimbelli et al, 2021 ) showed that a high intensity/low duration training program of 6 months was safe and effective in improving body metabolism and aerobic fitness in a 14-year-old CPTII-deficiency girl. From this point of view, it is important to underline that the current recommendations for CPTII deficiency are mainly aimed at reducing the severity of the disease’s symptoms not taking into proper account the long-term consequences of an approach based on CHORD and muscle inactivity on the general health of the subjects.…”