title: On 'being led by the nose'. Rapid detection of inborn errors of metabolism.
abstract: 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.
authors.affiliation: Department of Pediatrics, Children's Medical Center, Medical College of Virginia, Richmond.
authors.forename: W B
authors.initials: WB
authors.lastname: Rizzo
authors.forename: K S
authors.initials: KS
authors.lastname: Roth
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000503:physiopathology; D009812:Odorants; D010372:Pediatrics / Q000379:methods*; D010808:Physical Examination / Q000379:methods*; D012680:Sensitivity and Specificity; D012903:Smell