Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment

Abstract

Exercise and subsequent catabolism is a potential trigger for creatine kinase (CK) concentration increase (rhabdomyolysis) in patients with LCHADD, therefore we evaluated the clinical and biochemical stability under physical exertion conditions at the age of 13 years in a currently 14-year-old LCHADD patient treated with heptanoate.LCHADD was diagnosed during first decompensation at age 20 months. In the following 2 years, the patient had several episodes of rhabdomyolysis. Heptanoate 0.5-1 g/kg/day was started at 4 years, with no further CK elevations since. He is clinically stable, has retinopathy without vision impairment or polyneuropathy. Maximal incremental and endurance exercise tests were performed to evaluate both clinical and metabolic stability during and after exertion.Physical fitness was adequate for age (maximum blood lactate 7.0 mmol/L, appropriate lactate performance curve, maximum heart rate of 196 bpm, maximum power 139 Watt = 2.68 Watt/kg body weight). There were no signs of clinical (muscle pain, dark urine) or metabolic derangement (stable CK, acyl carnitine profiles, blood gas analyses) - neither after maximal incremental nor endurance exertion.This case illustrates that both under maximal incremental and endurance exertion, clinical and biochemical parameters remained stable in this currently 14-year-old LCHADD patient receiving heptanoate treatment.

Higher dietary protein intake preserves lean body mass, lowers liver lipid deposition, and maintains metabolic control in participants with long‐chain fatty acid oxidation disorders

“…Other important health activities that maintain LBM include normal routine exercise. Many patients with LC‐FAOD report muscle pain and lethargy with exercise and can become increasingly more sedentary over time . Disuse muscle atrophy would be expected to affect both LBM and the ability to maintain activities of daily living.…”

“…Many patients with LC-FAOD report muscle pain and lethargy with exercise and can become increasingly more sedentary over time. 1,31 Disuse muscle atrophy would be expected to affect both LBM and the ability to maintain activities of daily living. We did not measure participant activity in this study, so we cannot report whether these differences in LBM between the diet groups was able to close the "activity gap" in TEE of participants with LC-FAODs compared to normal controls that we have previously hypothesized.…”

Long-term Experience with Triheptanoin in 12 Austrian Patients with Long-chain Fatty Acid Oxidation Disorders

“…triheptanoin, has played an important role (10), even though its mode of action at a cellular level is still under investigation (17). However, even though triheptanoin treatment renders promising results in clinical practice (14,15), the challenge to quantify its effect in patients remains as reliable biochemical markers are lacking. Thus, surrogate markers are chosen to show bene cial effects of triheptanoin, like hospitalization needed before and after initiation of treatment.…”

“…Our approach to triheptanoin therapy resulted from a rst very positive experience with the oil in Patient over 15 years ago (14,15). As the initial preparation was an industrial oil that was used as an anticorrosive and was not very palatable and quite aggressive to plastic materials, after trying it ourselves and with informed consent of the parents of Patient 1 we started with an initial dosing of 0.5 g/kg/d.…”

Management of an LCHADD Patient During Pregnancy and High Intensity Exercise

“…A second study in 11 patients showed a lower steady state heart rate at the same workload after using pre-exercise MCT supplementation (0.5 g/kg lean body mass) compared to isocaloric carbohydrate supplementation in long chain fatty acid oxidation disorders (Behrend et al 2012). In addition, a positive effect of an odd chain triglyceride, triheptanoate, on exercise performance in a single LCHADD patient has been reported (Karall et al 2014). Since no cardiac output measurements were performed, these studies cannot distinguish between a positive effect of MCTs at the level of the heart versus the skeletal muscle.…”