219 Incidence Testing of Hunter Syndrome in A Population at Risk - First Results of A Binational Screening Programme

2012

Background Hunter syndrome (Mucopolysaccharidosis type II; X-linked inheritance; prevalence rate in Europe approximately 1:77000 male newborns) is a rare, progressive, multisystemic disease, caused by deficiency of the lysosomal enzyme Iduronate-2-sulfatase. Due to the very heterogeneous phenotype Hunter syndrome is often not diagnosed before pre-school age. This is unfortunate, because patients would significantly benefit from the earliest possible start of treatment containing enzyme replacement therapy. Early screening methods are possible, but due to the rarity of this disease they are too expensive to be performed in all newborns. An at-risk patient population screening provides opport…