Niemann-Pick disease
Niemann-Pick disease is a rare genetic disorder that affects the body's ability to metabolize fats, leading to harmful accumulation of lipids in various organs. It is caused by mutations in specific genes, which can result in different types of the disease, such as Niemann-Pick disease type A and type B. Symptoms may include enlargement of the liver and spleen, neurological issues, and respiratory problems.
The disease is classified as a lysosomal storage disorder, meaning it involves the malfunction of lysosomes, which are responsible for breaking down waste materials in cells. Diagnosis typically involves genetic testing and enzyme activity assays. Unfortunately, there is currently no cure, and treatment focuses on managing symptoms and improving quality of life.