ABOUT LAL-D
What is lysosomal acid lipase deficiency (LAL-D)? Find out more about the signs, symptoms and management of LAL-D.
What is LAL-D?
Lysosomal acid lipase deficiency (LAL-D) is a rare, progressive, and inherited condition caused by mutations in the LIPA gene which is responsible for the production of the lysosomal acid lipase (LAL) enzyme. LAL-D…
What are the signs and symptoms
The LAL enzyme plays a central role in breaking down certain fats and cholesterol. When there is a decrease or loss of the LAL enzyme, lipids and cholesterol do not get processed and get deposited…
Complications associated with LAL-D
LAL-D affects many vital organs, such as the liver, cardiovascular system, spleen and the gastrointestinal tract. In fact, most people with LAL-D experience complications in more than one organ system: Liver LAL-D is a…
Managing LAL-D
LAL-D can be diagnosed by demonstrating deficient LAL activity or mutations in the LIPA gene [1]. The level of LAL-D activity is determined using an enzyme-based blood test [1]. Genetic testing enables characterisation…