Metabolic Genetics, Victorian Clinical Genetic Services, Murdoch Children's Research Institute, The Royal Children's Hospital, Flemington Road, Parkville, Victoria, Melbourne 3052, Australia; Department of Nutrition and Food Services, Royal Children's Hospital, Flemington Road, Parkville, Victoria, Melbourne 3052, Australia; Be Active Sleep Eat (BASE) Facility, Department of Nutrition and Dietetics, Monash University, Faculty of Medicine, Nursing and Health Sciences, Level 1, 264 Ferntree Gully Road, VIC 3168, Melbourne, Australia.
Be Active Sleep Eat (BASE) Facility, Department of Nutrition and Dietetics, Monash University, Faculty of Medicine, Nursing and Health Sciences, Level 1, 264 Ferntree Gully Road, VIC 3168, Melbourne, Australia.
Mol Genet Metab. 2014 Aug;112(4):247-58. doi: 10.1016/j.ymgme.2014.05.008. Epub 2014 May 22.
Dietary restrictions required to manage individuals with inborn errors of metabolism (IEM) are essential for metabolic control, however may result in an increased risk to both short and long-term nutritional status. Dietary factors most likely to influence nutritional status include energy intake, protein quality and quantity, micronutrient intake and the frequency and extent to which the diet must be altered during periods of increased physical or metabolic stress. Patients on the most restrictive diets, including those with intakes consisting of low levels of natural protein or those with recurrent illness or frequent metabolic decompensation carry the most nutritional risk. Due to the difficulties in determining condition specific requirements, dietary intake recommendations and nutritional monitoring tools used in patients with IEM are the same as, or extrapolated from, those used in healthy populations. As a consequence, evidence is lacking for the safest dietary prescriptions required to manage these patients long term, as tolerance to dietary therapy is generally described in terms of metabolic stability rather than long term nutritional and health outcomes. As the most frequent therapeutic dietary manipulation in IEM is alteration in dietary protein, and as protein status is critically dependent on adequate energy provision, the use of a Protein to Energy ratio (P:E ratio) as an additional tool will better define the relationship between these critical components. This could accurately define dietary quality and ensure that not only an adequate, but also a safe and balanced intake is provided.
为了控制代谢异常，患者需要遵循饮食限制，但这可能会增加短期和长期营养状况不良的风险。最有可能影响营养状况的饮食因素包括能量摄入、蛋白质的质量和数量、微量营养素摄入，以及在身体或代谢压力增加期间必须改变饮食的频率和程度。饮食最受限制的患者，包括那些摄入低水平天然蛋白质的患者，或经常生病或频繁代谢失代偿的患者，存在最大的营养风险。由于难以确定特定病情的需求，因此用于 IEM 患者的饮食摄入建议和营养监测工具与用于健康人群的工具相同或从后者推断而来。因此，缺乏管理这些患者长期所需的最安全饮食处方的证据，因为饮食疗法的耐受性通常是根据代谢稳定性来描述的，而不是长期的营养和健康结果。由于 IEM 中最常见的治疗性饮食干预是改变饮食中的蛋白质，并且蛋白质状况严重依赖于充足的能量供应，因此使用蛋白质与能量比（P:E 比）作为额外的工具可以更好地定义这些关键成分之间的关系。这可以准确地定义饮食质量，并确保不仅提供足够的，而且还提供安全和平衡的摄入。
