The distinctive body smell of a newborn or a child may be the sign of an underlying inherited metabolic disorder, and sometimes even the sole diagnostic key to identify severe genetic conditions in life or death situations (such as a coma). A quick recognition of an inborn error of metabolism may radically change the prognosis and the life of a child by preventing the development of sequelae, especially the neurological ones. This paper is a brief guide to metabolic odours (frequent and rare, dangerous or not) that may be identified by paediatricians, both in the emergency room and in an outpatient clinic.
Candela, E., Tagliaferri, F., Baldo, F. (2025). SMELL MATTERS TOO: A BRIEF GUIDE TO METABOLIC ODOURS FOR PAEDIATRICIANS. MEDICO E BAMBINO, 44(8), 503-506 [10.53126/MEB44503].
SMELL MATTERS TOO: A BRIEF GUIDE TO METABOLIC ODOURS FOR PAEDIATRICIANS
Candela E.;Tagliaferri F.;
2025
Abstract
The distinctive body smell of a newborn or a child may be the sign of an underlying inherited metabolic disorder, and sometimes even the sole diagnostic key to identify severe genetic conditions in life or death situations (such as a coma). A quick recognition of an inborn error of metabolism may radically change the prognosis and the life of a child by preventing the development of sequelae, especially the neurological ones. This paper is a brief guide to metabolic odours (frequent and rare, dangerous or not) that may be identified by paediatricians, both in the emergency room and in an outpatient clinic.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
