Lysosomal Storage Diseases

Lysosomal storage diseases (LSDs) are a group of rare genetic disorders caused by the malfunction of lysosomes, which are the cell's waste disposal and recycling units. When lysosomes don’t work properly, harmful substances accumulate in cells, leading to various health problems. These can affect different organs and systems, causing symptoms like developmental delays, organ dysfunction, and pain. Common examples include Gaucher disease and Tay-Sachs disease. Treatment options vary and may include enzyme replacement therapy, gene therapy, or supportive care to manage symptoms and improve quality of life.