lysosomal storage diseases
Lysosomal storage diseases are 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 problems. These diseases can affect multiple organs and systems in the body.
There are over 50 different types of lysosomal storage diseases, including Gaucher disease, Fabry disease, and Pompe disease. Symptoms can vary widely but often include developmental delays, organ enlargement, and neurological issues. Early diagnosis and treatment are crucial for managing these conditions effectively.