Orphanet Journal of Rare Diseases volume 12, Article number: 112 (2017)
Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli & Maurizio Scarpa
MPS I-H is a complex disorder, mostly due to heterogeneity of IDUA mutational profile, which is largely responsible for phenotypical and clinical heterogeneity. Early diagnosis is instrumental in achieving the most appropriate treatment tailored to the different clinical manifestations of MPS I. Newborn screening is a good option for early diagnosis: nowadays regional screening pilot projects are already in place for MPS I measuring IDUA activity using dried blood spots, although reliable markers for early prediction of the phenotype allowing the decision of an appropriate therapeutic intervention has yet to be fully validated. Moreover, verifiable outcome predictors and markers still need to be identified and to be made comparable amongst different reference centres.