Clinical approach to inborn errors of metabolism in paediatrics

Abstract

Inborn errors of metabolism (IEM) are individually rare, but collectively numerous. The recent application of tandem mass spectrometry (tandem MS) to newborn screening and prenatal diagnosis has enabled presymptomatic diagnosis for some IEM. However, for most, neonatal screening tests are either too slow, too expensive or unreliable and, as a consequence, a simple method of clinical screening is mandatory before the initiation of sophisticated biochemical investigations.