Effectiveness of neonatal screening for MCAD deficiency in Australia

June 2007
Archives of Disease in Childhood;Jun2007, Vol. 92 Issue 6, p545
Academic Journal
The article discusses an Australian-wide study of the effectiveness of screening by tandem-mass spectrometry for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The study included 2,495,000 infants born between April 1994 and March 2004, of whom 810,000 were screened. MCAD deficiency was diagnosed in 2.3 per 100,000 infants in the unscreened population and in 5.2 per 100,000 in the screened population.


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