Morrow G
Clin Perinatol. 1975 Sep;2(2):361-72.
Inborn errors of metabolism can dramatically manifest themselves in the new born period or remain completely undetected. Awareness on the part of the physician, with every attempt being made to arrive at an early diagnosis, is the basis for a favorable outcome. Many approaches to therapy are possible but the most frequently used is that of substrate restriction in the form of dietary control. Frequent monitoring of growth as well as of plasma biochemical analysis can result in adequate nutritional status as well as in normal development.
先天性代谢缺陷可在新生儿期显著表现出来,也可能完全未被发现。医生提高意识,并尽一切努力尽早做出诊断,是取得良好结果的基础。治疗方法有很多种,但最常用的是以饮食控制形式进行底物限制。经常监测生长情况以及进行血浆生化分析,可确保充足的营养状况以及正常发育。