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On 'being led by the nose'. Rapid detection of inborn errors of metabolism
1Department of Pediatrics, Children's Medical Center, Medical College of Virginia, Richmond.
Archives of Pediatrics & Adolescent Medicine
|August 1, 1994
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.