Lysosomal Acid Lipase

Lysosomal Acid Lipase (LAL) is an enzyme responsible for hydrolyzing cholesterol esters and triglycerides within lysosomes. A deficiency in this enzyme, known as Lysosomal Acid Lipase Deficiency (LAL-D), leads to the intracellular accumulation of these lipids in various tissues and cell types, including the liver, gastrointestinal tract, and vascular endothelium. This accumulation can result in conditions such as Cholesteryl Ester Storage Disease (CESD) and Wolman Disease, characterized by hepatomegaly, liver dysfunction, and hepatic failure. Therapeutic administration of Lysosomal Acid Lipase aims to replace the deficient endogenous enzyme, thereby restoring lipid metabolism and preventing pathological lipid accumulation.