Lysosomal storage disorders are just beginning to be routinely screened using enzyme activity assays involving dried blood spots and tandem mass spectrometry. The present work discusses the development of a novel, simplified protocol which circumvents several analytical challenges for Morbus Fabry,Gaucher, Niemann-Pick A/B, Pompe, Krabbe and Mucopolysaccharidosis type I. Moreover, a first nationwide newborn screening pilot study was initiated, and the data analysis of the first 70,000 samples will be presented. The estimated incidence for Fabry disease is 1:4,000-5,000; Pompe 1:8-10,000; Gaucher 1:15-20,000, Niemann-Pick A/B 1:80-100,000 and MPS I 1:20-30,000. In addition, mutation analysis will reveal further detailed information on genetic variants. |
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