Neugeborenenscreening auf lysosomale speicherkrankheiten

Lysosomal storage disorders are a heterogeneous group of more than 50 disorders of lysosomal metabolism, that are characterised through a progressive clinical course and multi-organ involvement. Enzyme replacement therapy is available for some disorders where the defective enzyme is replaced through an intravenous infusion of the respective, recombinant enzyme. Early diagnosis, preferably when the patient is still oligosymptomatic and prompt initation of enzyme replacement therapy may have the potential to reduce long-term morbidity and mortality. Newborn screening for lysosomal storage disorders may use tandem mass spectrometry, immune capture or flurometric techniques respectively, although our group has the largest experience with the use of tandem mass spectrometry for enzyme analysis in lysosomal storage disorders. In fact we have been able to adapt and validate the tandem mass spectrometry technique for detection of POMPE and FABRY diseases in newborn infants. However, prior to implementation of newborn screening programmes for lysosomal storage disorders national and international guidelines for confirmatory testing and follow up management of affected infants have to be agreed upon.