Editorial commentary: Newborn screening for Fabry disease: Too much too soon?

The possibility to perform newborn screening for many lysosomal storage disorders, using tandem mass spectrometry (MS/MS), is undoubtedly going to change the prospect for patients with these conditions. By providing the opportunity to treat before patients become symptomatic, it may prevent complications and improve quality of life, as has been shown for other inherited metabolic disorders. Examples of successful interventions following the introduction of newborn screening are dietary measures in glutaric aciduria type I, which dramatically reduced the occurrence of movement disorders early in life [1] and NTBC treatment that has been shown to prevent hepatocellular carcinoma formation in tyrosinemia type [2].
Source: Trends in Cardiovascular Medicine - Category: Cardiology Authors: Source Type: research