Sphingolipidosis
Sphingolipidosis refers to a group of inherited metabolic disorders caused by the accumulation of sphingolipids in the body. These complex lipids are essential for cell membrane structure and function, but when enzymes responsible for their breakdown are deficient, they build up in various tissues, leading to cellular damage.
Common types of sphingolipidosis include Gaucher disease, Fabry disease, and Tay-Sachs disease. Symptoms can vary widely but often include neurological issues, organ enlargement, and skin problems. Early diagnosis and management are crucial for improving quality of life in affected individuals.