Article Text

Download PDFPDF
Effectiveness of neonatal screening for MCAD deficiency in Australia

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

The use of tandem-mass spectrometry for neonatal screening has increased greatly in the last 10 years. In Australia all infants are screened in this way and the disorders most frequently diagnosed are medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and phenylketonuria. There are few reports of outcomes after screening for rare disorders, but a nationwide Australian study of the effectiveness of screening by tandem-mass spectrometry for MCAD deficiency has now been …

View Full Text