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Inborn Errors of Metabolism of Acute Onset in Infancy

Pediatricians and neonatologists are frequently presented with ill neonates or older infants whose symptoms have an acute onset and a severe and/or recurrent character. The clinician faced with symptoms that are frequently nonspecific must differentiate among many disorders, usually considering infection, cardiac defects, central nervous system insults, or gastrointestinal problems. Not infrequently, an inborn error of metabolism (IEM) will mimic these more common conditions. Although each individual IEM is rare, throughout the course of a practice the clinician will cumulatively see many patients with such disorders, with various findings. According to a recent estimate, IEM account for as much as 20% of disease among full-term neonates not known to have been at risk.¹ The neonatologist and/or pediatrician will be the first to evaluate an acutely ill neonate or infant, and he or she must be alert to the possibility of an IEM. The implications of failing to entertain such a diagnosis may be formidable. An IEM should be considered early and appropriate screening tests obtained concurrently with assessment of the likelihood of more common causes.

The exact incidence with which IEM occur in the neonatal period or with acute symptoms in early to late infancy is not known. Cumulatively, IEM may represent more than 1 in 5000 live births.

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