Department of Pediatrics, University of Pécs, József A. u. 7., H-7623 Pécs, Hungary.
Nutrients. 2010 Sep;2(9):965-74. doi: 10.3390/nu2090965. Epub 2010 Sep 15.
The treatment of children with inborn errors of metabolism (IEM) is mainly based on restricted dietary intake of protein-containing foods. However, dietary protein restriction may not only reduce amino acid intake, but may be associated with low intake of polyunsaturated fatty acids as well. This review focuses on the consequences of dietary restriction in IEM on the bioavailability of long-chain polyunsaturated fatty acids (LCPUFAs) and on the attempts to ameliorate these consequences. We were able to identify during a literature search 10 observational studies investigating LCPUFA status in patients with IEM and six randomized controlled trials (RCTs) reporting effect of LCPUFA supplementation to the diet of children with IEM. Decreased LCPUFA status, in particular decreased docosahexaenoic acid (DHA) status, has been found in patients suffering from IEM based on the evidence of observational studies. LCPUFA supplementation effectively improves DHA status without detectable adverse reactions. Further research should focus on functional outcomes of LCPUFA supplementation in children with IEM.
儿童先天性代谢缺陷（IEM）的治疗主要基于限制蛋白质食物的摄入。然而，饮食中蛋白质的限制不仅会减少氨基酸的摄入，还可能与多不饱和脂肪酸（PUFAs）的摄入量低有关。本综述重点介绍了饮食限制对 IEM 患者长链多不饱和脂肪酸（LCPUFAs）生物利用度的影响，以及尝试改善这些后果的情况。通过文献检索，我们能够识别出 10 项观察性研究，这些研究调查了 IEM 患者的 LCPUFA 状况，以及 6 项随机对照试验（RCT），这些试验报告了 LCPUFA 补充饮食对 IEM 儿童的影响。基于观察性研究的证据，我们发现患有 IEM 的患者存在 LCPUFA 状况下降，特别是二十二碳六烯酸（DHA）状况下降。LCPUFA 补充有效地改善了 DHA 状况，且未发现不良反应。进一步的研究应集中在 LCPUFA 补充对 IEM 儿童的功能结果上。
