Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase defi ciency in Australia: a cohort study
Bridget Wilcken, Marion Haas, Pamela Joy, Veronica Wiley, Meredyth Chaplin, Carly Black, Janice Fletcher, Jim McGill, Avihu Boneh
Lancet 2007; 369: 37â€“42
This large australian study compared a population of children who were screened for MCAD and an unscreened population. One of the adavntage of this study over others on the same topic is that they have taken into consideration clinically diagnosed contemporaneous patients born in states where no MCAD screening was performed. They can thus have a better assessment of the number of patients which are never diagnosed.
They have proven that screening for MCAD deficiency provides a reduction in mortality and morbidity.
For more information on MCAD deficiency, see OMMBID chapter 101.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator