Journal of Inherited Metabolic Disease

, Volume 31, Issue 2, pp 173–177

The consequences of extended newborn screening programmes: Do we know who needs treatment?

SSIEM Symposium 2007


The development of an evidence base for newborn screening is especially difficult because of the rarity of disorders now detectable. One consequence of expanded newborn screening is that physicians are being called upon to manage asymptomatic babies with persistent biochemical disturbances that indicate likely enzyme deficiencies. Some of these may be very mild. There is not always agreement as to who should be treated. Particular problems are seen with disorders that were previously thought very rare but are now found frequently by newborn screening. Some of these disorders appear benign or nearly so, and in the present state of knowledge should clearly not be included in routine newborn screening panels.



medium-chain acyl-CoA dehydrogenase


3-methylcrotonyl-CoA carboxylase



Copyright information

© Springer Science+Business Media B.V. 2008

Authors and Affiliations

  1. 1.Biochemical Genetics and Newborn ScreeningThe Children’s Hospital at WestmeadWestmeadAustralia
  2. 2.The University of SydneySydneyAustralia

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