Collins J E, Leonard J V
Hum Nutr Appl Nutr. 1985 Aug;39(4):255-72.
Many inborn errors have now been described that can be treated by alterations in diet. Such treatment requires an understanding of both the biochemistry of the defect and of normal nutritional requirements. The principal strategies are cofactor therapy, steps to prevent accumulation of toxic metabolites and the replacement of essential nutrients that are deficient as a result of the metabolic block. It is essential to make sure that any diet used for more than a brief period is complete and capable of sustaining normal growth and development. The treatment of disorders of carbohydrate and amino acid metabolism including organic acidaemias and disorders of the urea cycle and of fat oxidation are discussed.
现在已经描述了许多可通过饮食调整来治疗的先天性代谢缺陷。这种治疗需要了解缺陷的生物化学以及正常的营养需求。主要策略包括辅助因子治疗、防止有毒代谢产物积累的措施以及补充因代谢阻滞而缺乏的必需营养素。必须确保任何使用时间超过短时期的饮食都是完整的，并且能够维持正常的生长和发育。本文将讨论碳水化合物和氨基酸代谢紊乱的治疗，包括有机酸血症、尿素循环紊乱和脂肪氧化紊乱。
