Rare Inborn Errors of Metabolism in Adults: The Lysosomal Storage Disorders (Congress Paper) (Disease/Disorder Overview) (Report‪)‬

GENERAL INTRODUCTION The lysosomal storage disorders (sphingolipidoses (Gaucher, Fabry), mucopolysaccharidoses, Pompe) are a group of diseases characterised by the abnormal breakdown and subsequent accumulation of complex molecules in the lysosomes as a consequence of an enzyme deficiency. From a clinical point of view there is wide clinical heterogeneity among the several forms of lysosomal storage diseases, but also between patients with the same defect. In this presentation we focus on their clinical manifestations, the diagnostic procedures and the therapeutic possibilities. Enzyme replacement therapy (ERT) is a novel development in this group of metabolic disorders that makes them "treatable " diseases.