Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, USA; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA.
Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, USA.
Mol Genet Metab. 2021 Jul;133(3):231-241. doi: 10.1016/j.ymgme.2021.04.007. Epub 2021 May 7.
One of the most vital elements of management for patients with inborn errors of intermediary metabolism is the promotion of anabolism, the state in which the body builds new components, and avoidance of catabolism, the state in which the body breaks down its own stores for energy. Anabolism is maintained through the provision of a sufficient supply of substrates for energy, as well as critical building blocks of essential amino acids, essential fatty acids, and vitamins for synthetic function and growth. Patients with metabolic diseases are at risk for decompensation during prolonged fasting, which often occurs during illnesses in which enteral intake is compromised. During these times, intravenous nutrition must be supplied to fully meet the specific nutritional needs of the patient. We detail our approach to intravenous management for metabolic patients and its underlying rationale. This generally entails a combination of intravenous glucose and lipid as well as early introduction of protein and essential vitamins. We exemplify the utility of our approach in case studies, as well as scenarios and specific disorders which require a more careful administration of nutritional substrates or a modification of macronutrient ratios.
管理先天性代谢缺陷患者最重要的内容之一是促进合成代谢，即身体构建新的组成部分的状态，同时避免分解代谢，即身体分解自身储存以获取能量的状态。合成代谢通过提供充足的能量底物供应，以及必需氨基酸、必需脂肪酸和用于合成功能和生长的维生素等关键构建块来维持。代谢疾病患者在长时间禁食期间容易出现失代偿，这种情况通常发生在摄入肠道营养受到影响的疾病期间。在这些时候，必须通过静脉内营养来完全满足患者的特殊营养需求。我们详细介绍了代谢患者静脉内管理的方法及其基本原理。这通常需要静脉内葡萄糖和脂肪的组合，以及尽早引入蛋白质和必需维生素。我们通过案例研究以及需要更仔细管理营养底物或调整宏量营养素比例的具体情况和特定疾病来说明我们方法的实用性。
