Diet Therapy of Long-Chain Fatty Acid Oxidation Defects

描述（由申请方提供）：长链3-羟酰辅酶A脱氢酶缺乏症（LCHADD）的饮食治疗包括避免禁食和补充中链甘油三酯（MCT）的低长链脂肪酸（LCFA）饮食。低血糖、酸中毒和心肌病的急性发作在很大程度上可以通过这种疗法预防，但慢性并发症，如运动诱导的横纹肌溶解，不能预防。MCT可以在运动期间提供替代燃料来源。目前随访的队列中有40%超重或肥胖，大多数受试者在休息时脂肪生成。本研究的第一个目的是确定高蛋白、减少碳水化合物饮食是否会降低LCHADD儿童的食欲，减少休息时的脂肪生成，并改善代谢控制。第二个目的是确定运动前补充MCT是否可降低LCHADD受试者的横纹肌溶解风险。将在随机交叉设计中评估与标准LCHADD饮食相比对高蛋白、减少碳水化合物饮食的代谢反应以及运动试验前有和无补充MCT的运动耐量。

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.