Lysosomal Storage Disorders

📋Overview

Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases caused by defects in lysosomal function, leading to accumulation of undigested macromolecules within cells. These disorders are genetically diverse and result from mutations affecting specific lysosomal enzymes or proteins. The term 'lysosomal storage disorders' is the modern preferred terminology encompassing multiple distinct conditions such as Gaucher disease, Fabry disease, Tay-Sachs disease, and Pompe disease.