Lysosomal Storage Disease
Lysosomal Storage Disease (LSD) refers to a group of inherited disorders caused by the malfunction of lysosomes, which are cellular structures responsible for breaking down waste materials and cellular debris. When lysosomes do not function properly, harmful substances can accumulate in cells, leading to various health issues. Examples of LSDs include Gaucher disease, Fabry disease, and Tay-Sachs disease.
These diseases can affect multiple organs and systems in the body, resulting in symptoms such as organ enlargement, neurological problems, and developmental delays. Diagnosis often involves genetic testing and enzyme assays, while treatment options may include enzyme replacement therapy, substrate reduction therapy, or supportive care to manage symptoms.