Guide To The Symptoms And Diagnosis Of Lysosomal Acid Lipase Deficiency

Lysosomal acid lipase deficiency (LAL-D), previously known as Wolman disease and cholesteryl ester storage disease, is an inherited and progressive condition. Patients with this disorder have a mutation on the LIPA gene, a gene responsible for teaching the body to make LAL enzymes. As a result of this mutation, patients with this condition are unable to break down certain types of lipids, and these then accumulate in the vital organs, including the heart, liver, kidneys, and spleen.