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.
(Arch Pediatr Adolesc Med. 1994;148:869-872)
Rizzo WB, Roth KS. On 'Being Led by the Nose'Rapid Detection of Inborn Errors of Metabolism. Arch Pediatr Adolesc Med. 1994;148(8):869–872. doi:10.1001/archpedi.1994.02170080099019