Evidence-based neonatal screening for inborn errors of metabolism

Abstract 

Newborn screening is on the verge of a major revolution. Screening for inborn errors of metabolism (IEM) throughout the United Kingdom (UK) commenced in the 1960s, with the introduction of testing for phenylketonuria. Subsequently, programmes for diagnosis of a number of other conditions in newborn infants, with neonatal bloodspots, have been developed.

Tandem mass spectrometry is a technological advance giving rise to the potential for a major expansion in newborn screening for IEMs. This has led to the development of a study to establish whether neonatal screening should be extended to include medium chain acyl CoA dehydrogenase deficiency. A pilot newborn screening service for MCADD has commenced covering approximately half the births in the UK.

Samples for tandem mass spectrometry should be collected as part of the diagnostic work-up for neonates and children presenting with a possible inborn error of metabolism, particularly fat oxidation defects.

Keywords:  Newborn screening, Phenylketonuria, Tandem mass spectrometry, Medium chain acyl CoA dehydrogenase deficiency