GRIDS July 1, 2021
Lysosomal Storage Disorders (LSDs) are a group of Rare Diseases, each of which is caused by the deficiency of a lysosomal enzyme or an essential cofactor leading to deposition of the substrate within the lysosomes, resulting in cellular and tissue dysfunction.
Therapies are now available for multiple LSDs with published guidelines for monitoring, treatment and clinical outcome measures. However, there is a high variability in presentation, clinical onset and course for any given LSD. It is now understood that late/adult onset and attenuated forms exist for several LSDs, including Pompe disease, Gaucher disease, Fabry disease, Tay-Sachs disease and Mucopolysaccharidoses (MPS).
With newer genomic techniques, more patients are diagnosed later in life and/or with ‘not so typical’ presentations. This workshop will focus on basic mechanisms, varied clinical phenotypes and establishing goals for disease monitoring and various treatment strategies for late onset/attenuated types of LSDs.