Rizzo W B, Roth K S
Department of Pediatrics, Children's Medical Center, Medical College of Virginia, Richmond.
Arch Pediatr Adolesc Med. 1994 Aug;148(8):869-72. doi: 10.1001/archpedi.1994.02170080099019.
We reviewed and emphasized the importance of olfaction for the diagnosis of inborn errors of metabolism. The "trained" nose has a remarkable sensitivity and specificity for discriminating odors that are associated with certain inborn errors of metabolism. These odors are often the first abnormality noticed on physical examination and should prompt the pediatrician to seek confirmatory laboratory studies.
我们回顾并强调了嗅觉在先天性代谢缺陷诊断中的重要性。“训练有素”的鼻子在辨别与某些先天性代谢缺陷相关的气味方面具有显著的敏感性和特异性。这些气味通常是体格检查中首先发现的异常情况，应促使儿科医生寻求实验室检查以进行确诊。
