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.1 LAL-D is characterised by problems with the breakdown and use of fats and cholesterol in the body.
When a child is diagnosed with LAL-D, the parents (who are carriers of the disease) should undergo genetic testing, as the risk for their next child to be affected is 25%.1
In patients with LAL-D, mutations in the LIPA gene cause reduced or absent LAL activity, resulting in the disruption of the lipid and cholesterol metabolism.1,3
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...
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...
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...
LAL, lysosomal acid lipase; LAL-D, lysosomal acid lipase deficiency; LIPA, lipase A.