Lysosomal Storage Disorders
Lysosomal Storage Disorders (LSDs) are a group of rare genetic conditions caused by the malfunction of lysosomes, which are cellular structures responsible for breaking down waste materials. When lysosomes do not function properly, harmful substances accumulate in cells, leading to various health issues. Examples of LSDs include Gaucher disease, Fabry disease, and Tay-Sachs disease.
These disorders can affect multiple organs and systems in the body, resulting in symptoms such as developmental delays, organ enlargement, and neurological problems. 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.