Department of Paediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany. das.anibh @ mh-hannover.de
Ann Nutr Metab. 2010;56(3):225-32. doi: 10.1159/000283242. Epub 2010 Mar 30.
BACKGROUND/OBJECTIVE: Hypoketotic hypoglycaemia and hypertriglyceridaemia are biochemical hallmarks of glycogen storage disease (GSD) 1. Increased malonyl coenzyme A production which compromises oxidation of long-chain fatty acids via carnitine palmitoyltransferase (CPT) 1 inhibition plays a crucial role in the pathogenesis of these complications. Therapy consists primarily of nutritional support including frequent carbohydrate-rich meals. We studied the effect of a diet enriched in medium-chain triglycerides (MCT) on metabolic control/growth in GSD 1 as medium-chain fatty acids can be oxidised independently of CPT 1.
An adult female, a 1.6-year-old boy with GSD 1a and a 6.5-year-old girl with GSD 1b treated with a classical GSD diet were enrolled; their 'classical GSD diet' was supplemented with MCT fats. Concentrations of glucose, lactate, ketone bodies triglycerides, uric acid, acylcarnitines in blood and organic acids in urine were determined.
No clinical or biochemical side-effects were observed. The MCT diet led to a decrease in uric acid concentrations in all patients. Triglyceride levels were reduced only in the youngest patient, while lactate concentrations did not significantly decrease. The MCT diet allowed for a reduction in carbohydrate and caloric intake required to maintain euglycaemia and led to improvement in growth in the two prepubertal patients.
MCT supplementation had a positive effect on metabolic control and growth in our patients suffering from GSD 1.
背景/目的：低血糖症和高三酰甘油血症是糖原贮积病（GSD）1 的生化特征。丙二酰辅酶 A 产量增加会通过肉毒碱棕榈酰转移酶（CPT）1 抑制损害长链脂肪酸的氧化，这在这些并发症的发病机制中起着至关重要的作用。治疗主要包括营养支持，包括经常食用富含碳水化合物的膳食。我们研究了富含中链甘油三酯（MCT）的饮食对 GSD 1 代谢控制/生长的影响，因为中链脂肪酸可以独立于 CPT 1 进行氧化。
招募了一名成年女性、一名 1.6 岁的 GSD 1a 男孩和一名 6.5 岁的 GSD 1b 女孩，他们接受了经典的 GSD 饮食治疗，并在其“经典 GSD 饮食”中补充了 MCT 脂肪。测定血液中葡萄糖、乳酸、酮体、甘油三酯、尿酸、酰基肉碱浓度和尿液中的有机酸。
未观察到临床或生化副作用。MCT 饮食使所有患者的尿酸浓度降低。仅在最年轻的患者中，甘油三酯水平降低，而乳酸浓度没有显著降低。MCT 饮食允许减少维持血糖正常所需的碳水化合物和热量摄入，并改善了两名青春期前患者的生长。
MCT 补充对我们患有 GSD 1 的患者的代谢控制和生长有积极影响。
