Lysosomal storage disorders (LSDs) are a group of ~50 genetic diseases of lysosomal function resulting in an intra-lysosomal accumulation of undegraded material with a combined incidence of 1:5.000 live births (Fuller et al. 2006). The clinical phenotype of LSDs varies widely from skeletal and visceral manifestation to severe CNS involvement depending on the defective protein and storage material involved.
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