MacDonald Anita, Webster Rachel, Whitlock Matthew, Gerrard Adam, Daly Anne, Preece Mary Anne, Evans Sharon, Ashmore Catherine, Chakrapani Anupam, Vijay Suresh, Santra Saikat
Consultant Dietitian in Inherited Metabolic Disorders, Dietetic Department, Birmingham Women's and Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, UK.
Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):297-304. doi: 10.1515/jpem-2017-0426.
Children with long-chain fatty acid β-oxidation disorders (LCFAOD) presenting with clinical symptoms are treated with a specialist infant formula, with medium chain triglyceride (MCT) mainly replacing long chain triglyceride (LCT). It is essential that the safety and efficacy of any new specialist formula designed for LCFAOD be tested in infants and children.
In an open-label, 21-day, phase I trial, we studied the safety of a new MCT-based formula (feed 1) in six well-controlled children (three male), aged 7-13 years (median 9 years) with LCFAOD (very long chain acyl CoA dehydrogenase deficiency [VLCADD], n=2; long chain 3-hydroxyacyl CoA dehydrogenase deficiency [LCHADD], n=2; carnitine acyl carnitine translocase deficiency [CACTD], n=2). Feed 1 (Lipistart; Vitaflo) contained 30% energy from MCT, 7.5% LCT and 3% linoleic acid and it was compared with a conventional MCT feed (Monogen; Nutricia) (feed 2) containing 17% energy from MCT, 3% LCT and 1.1% linoleic acid. Subjects consumed feed 2 for 7 days then feed 1 for 7 days and finally resumed feed 2 for 7 days. Vital signs, blood biochemistry, ECG, weight, height, food/feed intake and symptoms were monitored.
Five subjects completed the study. Their median daily volume of both feeds was 720 mL (range 500-1900 mL/day). Feed 1 was associated with minimal changes in tolerance, free fatty acids (FFA), acylcarnitines, 3-hydroxybutyrate (3-HB), creatine kinase (CK), blood glucose, liver enzymes and no change in an electrocardiogram (ECG). No child complained of muscle pain or symptoms associated with LCFAOD on either feed.
This is the first safety trial reported of an MCT formula specifically designed for infants and children with LCFAOD. In this short-term study, it appeared safe and well tolerated in this challenging group.
出现临床症状的长链脂肪酸β氧化障碍（LCFAOD）患儿采用特殊婴儿配方奶粉进行治疗，其中中链甘油三酯（MCT）主要替代长链甘油三酯（LCT）。为LCFAOD设计的任何新型特殊配方奶粉的安全性和有效性都必须在婴幼儿中进行测试。
在一项开放标签、为期21天的I期试验中，我们研究了一种新型基于MCT的配方奶粉（饲料1）在6名病情得到良好控制的7至13岁（中位数9岁）LCFAOD患儿（3名男性）中的安全性（极长链酰基辅酶A脱氢酶缺乏症[VLCADD]，n = 2；长链3 - 羟基酰基辅酶A脱氢酶缺乏症[LCHADD]，n = 2；肉碱/酰基肉碱转位酶缺乏症[CACTD]，n = 2）。饲料1（Lipistart；Vitaflo）含有30%来自MCT的能量、7.5%的LCT和3%的亚油酸，并与一种传统的MCT饲料（Monogen；Nutricia）（饲料2）进行比较，后者含有17%来自MCT的能量、3%的LCT和1.1%的亚油酸。受试者先食用饲料2 7天，然后食用饲料1 7天，最后再恢复食用饲料2 7天。监测生命体征、血液生化、心电图、体重、身高、食物/饲料摄入量和症状。
5名受试者完成了研究。两种饲料的日均摄入量中位数均为720 mL（范围500 - 1900 mL/天）。饲料1与耐受性、游离脂肪酸（FFA）、酰基肉碱、3 - 羟基丁酸（3 - HB）、肌酸激酶（CK）、血糖、肝酶的变化极小相关，且心电图（ECG）无变化。两种饲料喂养期间均无患儿抱怨肌肉疼痛或出现与LCFAOD相关的症状。
这是首次报道的针对LCFAOD婴幼儿专门设计的MCT配方奶粉的安全性试验。在这项短期研究中，该配方奶粉在这个具有挑战性的群体中似乎是安全且耐受性良好的。
