Nyhan W L
Curr Probl Pediatr. 1977 Apr:1-20.
Heritable metabolic disease is a significant cause of overwhelming illness in the very young infant. It appears that most patients with well recognized disorders are not being diagnosed, and it is our conviction that there are new, as yet unidentified, inborn errors of metabolism in this population of patients. We have attempted to develop a systematic approach to the seriously ill newborn as a candidate for an early diagnosis of metabolic disease. There are some clinical clues that suggest the presence of disordered metabolism. The laboratory can be useful in confirming initial clinical suspicions and in screening for the presence of abnormality. The complexity of laboratory evaluation increases as one proceeds to definitive diagnosis and modern organic analysis.
遗传性代谢疾病是导致婴幼儿患重病的一个重要原因。看来，大多数患有已被充分认识的疾病的患者尚未得到诊断，而且我们坚信，在这群患者中存在新的、尚未被识别的先天性代谢缺陷。我们试图开发一种系统的方法，用于对患有重病的新生儿进行代谢疾病的早期诊断。有一些临床线索提示存在代谢紊乱。实验室检查有助于证实最初的临床怀疑，并筛查异常情况的存在。随着诊断进入确定性诊断阶段和现代有机分析阶段，实验室评估的复杂性会增加。
