Lipase a, lysosomal acid type

Lipase A, Lysosomal Acid Type is an enzyme that is encoded in humans by the LIPA gene. This enzyme is a key component in the metabolism of lipids, specifically in the hydrolysis of cholesterol esters and triglycerides.

Function

Lipase A, Lysosomal Acid Type, also known as LAL, is responsible for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized through lipoprotein uptake. The enzyme is essential for the complete degradation of lipoproteins.

Structure

The LIPA gene encoding Lipase A, Lysosomal Acid Type is located on chromosome 10 (10q23.31). The enzyme is a glycoprotein with a molecular weight of approximately 40 kDa. It is synthesized as a precursor protein that undergoes proteolytic processing to generate the mature enzyme.

Clinical Significance

Mutations in the LIPA gene can lead to a deficiency of Lipase A, Lysosomal Acid Type, resulting in two distinct diseases: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is a severe metabolic disorder characterized by the accumulation of cholesteryl esters and triglycerides in various tissues, leading to liver failure and death in infancy. CESD is a milder form of the disease that presents in childhood or adulthood with hepatomegaly, elevated serum liver enzymes, and hyperlipidemia.

See Also

• Lipase
• Lysosome
• Metabolism
• Wolman disease
• Cholesteryl ester storage disease