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August 1994

On 'Being Led by the Nose': Rapid Detection of Inborn Errors of Metabolism

Author Affiliations

From the Department of Pediatrics, the Division of Genetics, Endocrinology, and Metabolism, Children's Medical Center, Medical College of Virginia, Richmond.

Arch Pediatr Adolesc Med. 1994;148(8):869-872. 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.

(Arch Pediatr Adolesc Med. 1994;148:869-872)