Lysosomal Storage Diseases
Lysosomal Storage Diseases (LSDs) are a group of inherited metabolic 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. Each type of LSD is linked to a specific enzyme deficiency, affecting different organs and systems in the body.
Symptoms of LSDs can vary widely but often include developmental delays, organ enlargement, and neurological problems. Examples of these diseases include Gaucher disease, Fabry disease, and Tay-Sachs disease. Early diagnosis and treatment are crucial for managing symptoms and improving quality of life for affected individuals.