Diet Therapy of Long-Chain Fatty Acid Oxidation Defects

描述(申请人提供)：长链3-羟基酰辅酶A脱氢酶缺乏症(LCHADD)的饮食疗法包括避免禁食和低长链脂肪酸(LCFA)饮食辅以中链甘油三酯(MCT)。这种疗法可以在很大程度上预防急性低血糖、酸中毒和心肌病，但不能预防运动引起的横纹肌溶解等慢性并发症。MCT可在运动期间提供替代燃料来源。目前跟踪的队列中有40%超重或肥胖，大多数受试者在休息时都会产生脂肪。这项研究的第一个目标是确定高蛋白、减少碳水化合物饮食是否会减少LCHADD儿童的合成代谢，减少静息时的脂肪生成，并改善代谢控制。第二个目标是确定运动前补充MCT是否能降低LCHADD受试者横纹肌溶解的风险。与标准LCHADD饮食相比，高蛋白、低碳水化合物饮食的代谢反应以及在运动测试之前使用和不使用补充MCT的运动耐量将通过随机交叉设计进行评估。

DESCRIPTION (provided by applicant): Dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) includes avoidance of fasting and a low long-chain fatty acid (LCFA) diet supplemented with medium chain triglyceride (MCT). Acute episodes of hypoglycemia, acidosis, and cardiomyopathy are largely prevented with this therapy, but chronic complications, such as exercise-induced rhabdomyolysis, are not prevented. MCT may provide an alternate fuel source during exercise. Forty percent of a currently followed cohort is overweight or obese and most subjects are lipogenic at rest. The first objective of this study is to determine if a high protein, reduce carbohydrate diet will decrease anabolism, decrease lipogenesis at rest, and improve metabolic control in children with LCHADD. The second objective is to determine if MCT supplementation prior to exercise decreases the risk of rhabdomyolysis of subjects with LCHADD. The metabolic response to a high protein, reduced carbohydrate diet compared to a standard LCHADD diet and exercise tolerance with and without supplemental MCT prior to exercise testing will be assessed in a randomized crossover design.