How does LAL-D Occur?
LAL-D occurs when a person inherits a defective copy of the LIPA gene from both parents. In these situations LAL enzyme either does not work properly or is not made at all.
Patient image is hypothetical.
Historically known as Wolman Disease in infants and cholesteryl ester storage disease (CESD) in children and adults, LAL-D is caused by mutations in the LIPA gene, leading to the deficiency of LAL enzyme.
Early management may reduce the risk of serious complications – talk to your/your loved one’s doctor about symptoms you/they are experiencing and if testing for LAL-D is right for you/them.