Lysosomal acid lipase deficiency

LAL deficiency is an autosomal recessive lysosomal storage disease caused by deficiency or complete absence of the LAL enzyme. Lack of LAL destroys the breakdown of cholesterol esters and triglycerides, and stores the undegraded material in the lysosomes of the body cells. Especially the liver, spleen, blood vessels and the GI tract are affected.

The lack of lysosomal acid lipase was previously classified into two forms, due to the different course of events: an infantile, rapidly progressive form (Wolman's disease) and a first delayed-onset form (cholesterol ester storage disease, CESD) in children and adults.  

The early childhood, rapidly progressive form occurs already in the first weeks of life and leads very quickly to death.

The second type of progression in children and adults is less rapid but also progressive, and may result in death due to liver failure due to chronic liver injury and cardiovascular events