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Pompe Disease

Pompe disease is an inherited genetic disorder caused by a deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA), which results in build-up of complex sugars (glycogen) in muscle cells throughout the body. Learn more about Pompe disease in this section.


The mucopolysaccharidoses (MPS) family is a group of inherited diseases, each caused by accumulation of various glycosaminoglycans (GAGs) in the lysosomes. One of the important common type  of MPS family - MPS I is caused by genetic changes in the IDUA gene. Explore relevant scientific content on MPS-I in this section. 

Dried Blood Spot

Dried Blood Spot or DBS has become a convenient tool in both qualitative and quantitative biological analysis of enzymes estimation of LSDs in the last few years. The DBS test is a simplified way to diagnose lysosomal storage disorders. Explore this section to know more about DBS and its applications in LSDs diagnosis.

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