Gillingham Melanie B, Connor William E, Matern Dietrich, Rinaldo Piero, Burlingame Terry, Meeuws Kaatje, Harding Cary O
Departments of Pediatrics and Molecular and Medical Genetics, Oregon Health and Science University (OHSU), Mail code CDRC-F, P.O. Box 574, Portland, OR 97207-0574, USA.
Mol Genet Metab. 2003 Jun;79(2):114-23. doi: 10.1016/s1096-7192(03)00073-8.
Current dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency consists of fasting avoidance, and limiting long-chain fatty acid (LCFA) intake. This study reports the relationship of dietary intake and metabolic control as measured by plasma acylcarnitine and organic acid profiles in 10 children with LCHAD or TFP deficiency followed for 1 year. Subjects consumed an average of 11% of caloric intake as dietary LCFA, 11% as MCT, 12% as protein, and 66% as carbohydrate. Plasma levels of hydroxypalmitoleic acid, hydroxyoleic, and hydroxylinoleic carnitine esters positively correlated with total LCFA intake and negatively correlated with MCT intake suggesting that as dietary intake of LCFA decreases and MCT intake increases, there is a corresponding decrease in plasma hydroxyacylcarnitines. There was no correlation between plasma acylcarnitines and level of carnitine supplementation. Dietary intake of fat-soluble vitamins E and K was deficient. Dietary intake and plasma levels of essential fatty acids, linoleic and linolenic acid, were deficient. On this dietary regimen, the majority of subjects were healthy with no episodes of metabolic decompensation. Our data suggest that an LCHAD or TFP-deficient patient should adhere to a diet providing age-appropriate protein and limited LCFA intake (10% of total energy) while providing 10-20% of energy as MCT and a daily multi-vitamin and mineral (MVM) supplement that includes all of the fat-soluble vitamins. The diet should be supplemented with vegetable oils as part of the 10% total LCFA intake to provide essential fatty acids.
目前，针对长链3-羟基酰基辅酶A脱氢酶（LCHAD）或三功能蛋白（TFP）缺乏症的饮食疗法包括避免禁食和限制长链脂肪酸（LCFA）的摄入。本研究报告了10名患有LCHAD或TFP缺乏症的儿童在接受为期1年的随访中，饮食摄入量与通过血浆酰基肉碱和有机酸谱测量的代谢控制之间的关系。受试者的饮食中，平均11%的热量来自LCFA，11%来自中链甘油三酯（MCT），12%来自蛋白质，66%来自碳水化合物。血浆中羟基棕榈油酸、羟基油酸和羟基亚油酸肉碱酯的水平与总LCFA摄入量呈正相关，与MCT摄入量呈负相关，这表明随着饮食中LCFA摄入量的减少和MCT摄入量的增加，血浆羟基酰基肉碱相应减少。血浆酰基肉碱与肉碱补充水平之间没有相关性。脂溶性维生素E和K的饮食摄入量不足。必需脂肪酸亚油酸和亚麻酸的饮食摄入量及血浆水平均不足。在这种饮食方案下，大多数受试者身体健康，没有代谢失代偿发作。我们的数据表明，LCHAD或TFP缺乏症患者应坚持一种饮食，提供适合其年龄的蛋白质，限制LCFA摄入量（占总能量的10%），同时提供10%-20%能量的MCT以及每日多种维生素和矿物质（MVM）补充剂，其中包括所有脂溶性维生素。饮食中应补充植物油，作为总LCFA摄入量10%的一部分，以提供必需脂肪酸。
