Sphingolipidoses
Sphingolipidoses are a group of inherited metabolic disorders caused by the accumulation of sphingolipids, a type of fat molecule, in the body. These conditions arise from deficiencies in specific enzymes that break down sphingolipids, leading to their buildup in various tissues, particularly in the brain and other organs. Common types include Gaucher disease, Fabry disease, and Tay-Sachs disease.
Symptoms of sphingolipidoses can vary widely but often include neurological issues, organ enlargement, and developmental delays. Diagnosis typically involves genetic testing and enzyme activity assays. Treatment options may include enzyme replacement therapy, substrate reduction therapy, or supportive care to manage symptoms.