-
Views
-
Cite
Cite
Michael J Bennett, Piero Rinaldo, Bridget Wilcken, Kenneth A Pass, Michael S Watson, Ronald J A Wanders, Newborn Screening for Metabolic Disorders: How Are We Doing, and Where Are We Going?, Clinical Chemistry, Volume 58, Issue 2, 1 February 2012, Pages 324–331, https://doi.org/10.1373/clinchem.2011.171215
Close - Share Icon Share
Extract
Owing to technological advances during the last decade, there has been a paradigm shift in the way that we diagnose patients with inherited metabolic disease. The introduction of tandem mass spectrometry (MS/MS),7 a technology with sufficient analytical sensitivity to measure metabolic biomarkers in small blood spot samples, has allowed us to shift from what was initially a diagnosis made after or during acute metabolic decompensation into an era in which diagnosis is made immediately in the newborn period. In this environment, the diagnosis of certain metabolic diseases frequently precedes the onset of symptoms, giving physicians an opportunity to prevent many of the catastrophic events that used to occur. To this point, disorders such as medium-chain acyl-CoA dehydrogenase (MCAD) deficiency now rarely initially present as the acute-onset liver failure that was previously seen in unscreened and consequently undiagnosed patients. Clinical outcomes for MCAD deficiency are now excellent, and data on some of the other screened disorders are starting to show the benefit of early diagnosis.
