It is the purpose of this review to attempt to define those constellations of findings in the newborn which should alert the clinician to the possibility of an inborn error of metabolism. The authors will confine the discussion to those disorders for which manifestations have been observed in the neonatal period and will not discuss the many disorders that typically occur in later infancy or childhood. An additional goal of this discussion will be to provide an approach to the selective use of some simple laboratory tools in infants suspected of having a metabolic disease.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health